7A Mellkasdeformitsok, a vllv fejldsi rendellenessgei

I. 1. Kros mellkasformk: Emphysems - hord alak s tg, cskkent lgzsi kitrs bordavek szglete tompa, lefutsuk vzszintes Kyphoscoliotikus - csigolyadeformitsok, scoliosis talajn Aszimmetrikus Szk, lapos mellkas Krlrt eldomborods, helyi behzds Csontos mellkas fejl.zavarai Surgical Treatment for Chest Wall Deformities Pectus Excavatum/Carinatum, Poland Syndrome, Mbius syndrome 1. General Background The thorax is a rigid structure that protects the thoracic organs and supports the upper extremities. Abnormalities of the thorax often result in cosmetic complaints, but some chest wall deformities result in functional limitations, such as activity intolerance related to cardiac or respiratory impairment. Reported symptoms include mild to moderate o exercise limitation, o respiratory infections, and o asthmatic conditions. Ultimately, the deformity places physiological restrictions on the patient and results in o decreased stamina and endurance. The most commonly reported chest wall deformities include pectus excavatum (PE), pectus carinatum (PC) and Poland syndrome. 2. Pectus Excavatum a. /tlcsrmell,susztermell/: PE, also referred to as a sunken chest or funnel chest, is the most common congenital chest wall deformity, occurring in approximately one in 400 births. It occurs in males more frequently than in females (4:1). Although the etiology is not fully understood, it is hypothesized that PE occurs as a result of imbalanced or excessive growth of the lower costal cartilages that leads to a concave appearance of the anterior chest wall. (A sternum als rsznek veleszletet vagy szerzett besppedse miatti klnbz mrtk mellkasdeformits. Etiopatolgija tisztzatlan, esetleg a bordaporcok fejldsi zavara okozza.) The deformity may be deeper on the right side than on the left and result in a rotation of the sternum. Lehet szimmetrikus vagy nem. It is typically diagnosed within the first year of life, with wide variations in the degree of sternal depression. During periods of rapid bone growth (e.g., puberty), the appearance of the chest may worsen and symptoms may develop. Moderate to severe deformities may displace the heart into the left chest, decreasing stroke volume and cardiac output. They may also depress the sternal volume, adversely affecting the flow of air in and out of the lungs. b. Tnetek:

- ltalban nem progredil deformits a szletskor - asthenis kllem gyermek, elreesett vllakkal Symptoms may include fatigue, - fradkonysg, terhelhetsg cskkense dyspnea, paradox lgzs, asthma chest discomfort and palpitations with mild exercise. The body generally compromises by increasing the heart rate with activity to overcome the decreased cardiac output and by more rapid, shallow breathing to compensate for the respiratory deficit. Scoliosis, congenital heart disease and functional heart murmurs can also be associated with PE. tachycardia, szvzrej - ms fejldsi rendellenessgek trsulhatnak - psyches zavarok 3. Pectus Carinatum /csirkemell/ s pectus gallinatum/hajmell/: PC (pigeon breast or chicken breast) is a congenital chest deformity characterized by an anterior protrusion deformity of the sternum and costal cartilages. A sternum fels harmadnak elemelkedse, szintn lehet szimmetrikus vagy nem. Trszktst s a panaszt tbbnyire nem okoz. Although this condition also affects males more frequently than females (4:1), it occurs less frequently than PE. PC is typically not confirmed until after the growth spurts of early adolescence. This deformity produces a rigid chest with inefficient respiration as a result of the obstructive chest formation. Three types of PC-related defects have been identified in the literature: anterior displacement of the body of the sternum and symmetrical concavity of the costal cartilages lateral depression of the ribs on one or both sides of the sternum the pouter pigeon breast (the least common of the three): a defect that consists of an upper or chondromalacial prominence with protrusion of the manubrium and depression of the sternal body The degree of physiological impairment is related to the degree of chest deformity. Patients with PC often develop symptoms as a result of restricted air exchange; complete expiration of air from the lungs does not occur. In addition, pain may result from the secondary pressures that develop from the overgrowth of cartilage. Other conditions that may be associated with PC include o frequent respiratory infections, o asthma, o rickets and o cardiac changes. hanyag tarts rekesz tapadsnak megfelelen Harrisonbarzda 4. Poland Syndrome The congenital defect of the thorax, Poland syndrome, was described by Sir Alfred Poland in 1841. He noted restricted musculature on one side of the thorax on a single autopsy. In his report entitled "Deficiency of the pectoralis muscle," he described absence of the sternocostal portion of the pectoralis major, an absent pectoralis minor, and a severely hypoplastic serratus anterior and

external oblique. de Haan associated the defects of Poland syndrome to the overlooked concomitant deformities of the ipsilateral upper extremity and hand. Poland syndrome (Polands anomaly, Polands syndactyly), a rare congenital disorder occurring in approximately one in 30,000 births, is associated with lateral depression of the ribs on one side or both sides of the sternum. The right side of the body is affected twice as often as the left. When the anomaly occurs on the left side of the body, the heart and lungs are vulnerable, because they may be covered only by skin, fascia and pleura (Rush, Ginsberg, 1999). Authors hypothesize that a circulatory defect in the subclavian artery during early pregnancy may be a related cause, but the actual cause is unknown. The etiology of Poland syndrome, a congenital defect of the chest wall, is unclear, yet the current theory describes hypoplasia of the ipsilateral subclavian artery in utero. The subclavian artery supply disruption sequence (SASDS) described by Parker et al illustrates the kinking of the upper extremity artery as the ribs grow forward and medially. The reduction in lumen diameter and thus flow impedes distal growth, which supports the theory that more proximal blocked flow results in more severe deformity. The incidence of Poland syndrome is 1 in 30,000. The right side in Poland syndrome is affected twice as often as the left and it is considered to be autosomal dominant with low penetrance. The condition is characterized by absence or hypoplasia of the pectoralis major muscle, absence or hypoplasia of the pectoralis minor muscle, absence of costal cartilages, hypoplasia of the breast and subcutaneous tissue, and a variety of hand and upper-extremity anomalies. In cases of severe cartilage deficiency, patients may develop lung hernia and paradoxical respiratory motion. In less severe cases, patients may develop a simple flattening of the anterior chest wall. 5. Mbius syndrome involves the anomalies observed in Poland syndrome in addition to bilateral facial paralysis and the inability to abduct the eyes. Mbius syndrome is observed in 1 individual per 500,000. 6. Diagnosis and Evaluation a. Radiographs (x-ray and CAT scans) are commonly used to determine the degree of chest wall deformity. The degree of deformity can be determined by dividing the inner width of the chest at the widest point, by the distance between the posterior surface of the sternum and the anterior surface of the spine. CT scans are better able to define the ratio of anterior-posterior (AP) borders to transverse diameters. Diameters are taken at the deepest level of the sternal depression. CT scan ratios that reveal transverse to AP diameter of greater than 3.25 are considered significant for pectus excavatum. A normal chest has an index of 2.5 (Malek, et al., 2003; Fonkalsrud, 2004). Pectus Excavatum o esetleg scoliosis, szvrnyk deformits, thelyezettsg o oldalfelvtelen besppeds o index: bels sternovertebrlis tv./mellkasharnttmr (rekeszkupolknl) 35% felett norm.,20% alatt slyos deformits b. Pulmonary function studies and echocardiography may be used to evaluate cardiac and respiratory status. In most cases, tests will be normal at rest. If the patient is subjected to intense exercise, the cardiac output and respiratory function may decrease. Electrocardiography abnormalities are common, consisting primarily of right-axis deviation and depressed ST segments, which occur as a result of the rotation of the heart. In approximately 18% of the patients, a functional systolic cardiac murmur may be heard, due to compression of the right ventricle (Fonkalsrud, 2004). Echocardiograms may

occasionally demonstrate mitral valve prolapse. Measurements of cardiac output and stroke volume have been demonstrated to be decreased in patients preoperatively during periods of exercise. 7. Relevant Anatomy: The paired internal thoracic arteries, the deep epigastric systems, provide the main blood supply to the ventral aspect of the chest. This system connects the major vessels of the neck to those in the groin. Many flaps are based on understanding this vascular supply. Collateral blood supply from the acromiothoracic axis is also important to recognize.

Latissimus dorsi muscle: The thoracodorsal artery and vein supply the anterior two thirds of the latissimus dorsi muscle (LDM). Posteriorly, the LDM relies on perforators. The thoracodorsal nerve is the only nerve supply. The LDM is the largest flat muscle, extending from the lower 6 thoracic vertebrae posteromedially, the crest of the ileum inferiorly, wrapping around anterosuperiorly with the teres major muscle to form the posterior axillary fold, and attaching to the intertubercular sulcus of the humerus.

Pectoralis major muscle: The pectoralis major muscle (PMM) is a fan-shaped muscle that covers the anterior superior portion of the chest and forms the anterior axillary fold. The proximal attachments are the medial half of the clavicle, the anterior surface of the sternum, the superior 6 costal cartilages, and the aponeurosis of the external oblique muscle. The distal attachments include

the lateral lip of the intertubercular groove of the humerus. Blood supply includes perforators from the internal thoracic artery, intercostal arteries, and from the thoracoacromial artery. Innervation is supplied by the lateral and medial pectoral nerves. Serratus anterior muscle: Located in the lateral portion of the thorax overlying the intercostals, the proximal attachments of the serratus anterior muscle (SAM) include the lateral external surfaces of ribs 1-8; the distal attachment is the anterior surface of the medial border of the scapula. Innervation and blood supply are provided via the long thoracic nerve and artery.

Rectus abdominis muscle: This long, broad, strap muscle is the principal vertical muscle of the anterior abdominal wall. Its origin is at the pubic symphysis and crest and its insertion is the xiphoid process and fifth to seventh costal cartilages. The innervation to the rectus abdominis muscle (RAM) includes the ventral rami of the inferior 6 thoracic nerves. The arterial supply is mainly from the inferior and superior deep epigastric arteries, supplemented by branches of the subcostal arteries. http://www.getbodysmart.com/ap/muscularsystem/backabdomen/abdomen/rectusabdominus/tutori al.html External oblique muscle: The external oblique muscle (EOM) is located in the anterolateral portion of the abdominal wall. Its origin is the external surfaces of ribs 5-12 and its insertion is the linea alba, pubic tubercle, and the anterior half of the iliac crest. Its innervation is from the inferior 6 thoracic nerves, including the subcostal. The blood supply primarily involves the small arteries that arise from anterior and collateral branches of the posterior intercostal arteries in the 10th and 11th intercostal spaces and from anterior branches of the subcostal arteries. http://www.getbodysmart.com/ap/muscularsystem/backabdomen/abdomen/externaloblique/tut orial.html Intercostal muscles: Comprising the external, internal, and innermost layers, the intercostal muscles, located between ribs, are used for inspiration and expiration. The innervation and blood supply to these muscles involve the intercostal nerves and arteries. Omentum: Located intra-abdominally, the omentum drapes off of the greater curvature of the stomach. The omentum is a highly vascular and versatile sheet of adipose supplied by the gastroepiploic arteries.

Poland syndrome is characterized by abnormalities of the costal cartilages and anterior rib ends and total absence of the anterolateral ribs, resulting in herniation of the lung and deformities of the chest wall and musculature. This may manifest as absence of the sternal head of the pectoralis major (pectoralis minor may be absent), hypoplasia or aplasia of the nipple or breast, lack of subcutaneous fat and axillary hair, and shortening of the ipsilateral upper extremity along with brachysyndactyly and potential complete absence of the middle phalanges. Pectus excavatum, also known as funnel chest, is characterized by a depressed sternum, which is held posteriorly and sunken by rib cartilage overgrowth. This explains the worsening of the condition as the child grows. Rounded sloping shoulders and mild kyphosis also are evident as well as the cardiopulmonary dysfunction that is associated with this deformity. Pectus carinatum is due to overgrowth of the rib cartilages. This results in a protrusion of the lower sternum and xiphoid in the chondroglandular type and of the upper sternum and manubrium in the chondromanubrial type. Contraindications: The procedure is for reconstruction, thus the contraindications are related to operative risk and flap design. The former is discussed in a separate article titled Flaps, Muscle and Musculocutaneous Flaps and the latter is discussed in the Surgical Therapy section. 8. Surgical Treatment a. Patients with chest wall deformities often have poor body image and self-esteem. Some individuals attempt to cover the defect with clothing and avoid activities that may require exposure of the chest. Indications for surgical correction are controversial. Surgical repair is offered primarily as a method of improving cosmesis and psychological factors but may be necessary to improve cardiopulmonary function in some patients, as the disfigurement may be accompanied by restrictions in lung or pulmonary functioning. Some reports suggest a high recurrence rate due to periods of rapid bone growth if surgical repair is performed at an early age (Fonkalsrud, 2004). While the optimal age for surgical repair is generally between the ages of 11 and 18 years, each case must be reviewed individually for the presence of impaired cardiopulmonary symptoms. In some cases, surgery may be performed in adults to correct pectus deformities. Adults who have uncorrected PE deformity and experience symptoms of activity limitations may undergo surgical repair with low morbidity, short-term limitation of activities and improvement of symptoms (Fonkalsrud, 2003). b. A kezels mdjnak kivlasztsakor figyelembe kell venni a beteg letkort, a deformits slyossgt, a panaszokat s tneteket s a psychs statuszt.A mtt optimlis idpontja 4-14 v kztt, de van aki korbban elvgzi preventiv cllal. - enyhe deformitsoknl torna, observatio - kzepes elvltozsnl ha cerdioresp.statusz rintett operland preventiv cllal - slyos deformitst mg panaszmentessg esetn is ajnlott Surgery for PE may be performed using any of several techniques, including a Preventiv mttnl a rekesz centrum tendineuma s a sternum bels fele kztti ksz.kteg tmetszse. sternal osteotomy (a modified osteotomy that involves supporting, removing and repositioning the sternum) Ennek hrom lpse:1.mobilisls 2.korrekcio 3.rgztsA korrekcio harnt vagy T.osteotomival trtnhet. A rgzts lehet hzsos kls, bels (pl.fordtott visszahelyezs vagy drtvarrat) s altmasztsos(K-drt,tibia, xyphoid interpositio) Puberts utn 10-20 %-ban recidiva lehet. Ezen kvl a postoperativ problma lehet mg: keloid, egyenetlen bordaregenertum. or implantation of a Silastic mold in the subcutaneous space to fill the defect without altering the thoracic cage.

Surgical correction often employs a metal bar behind the sternum; the bar may be removed in 1-2 years, after remolding has occurred. More recently, minimally invasive techniques, including the Nuss procedure (a minimally invasive repair of pectus excavatum [MIRPE]), have been utilized that involve the insertion of a convex steel bar beneath the sternum through small thoracic incisions. These recently developed minimally invasive methods do not require cartilage resection or osteotomy.

Preoperative pectus excavatum surgery

Postoperative pectus excavatum surgery

Preoperative pectus excavatum surgery with brace

Silicone implants are best used in patients who are beyond their growth spurt and are asymptomatic. This aesthetic elective procedure falls under the category "camouflaging procedures" first described by Murray. Reconstructive procedures involve infants with severe compromising cardiopulmonary abnormalities. When the transverse chest to narrowest anteroposterior diameter exceeds 3.25:1, this is believed to indicate surgical repair. According to Haller et al, reconstruction is encouraged prior to the completion of puberty, ideally when the patient is aged 4-6 years, to "relieve structural compression of the chest and allow normal growth of the thorax, to prevent pulmonary and cardiac dysfunction in teenagers and adults, and to obviate the cosmetic impact that may cause a child to avoid sports and gymnastics." The various techniques involved in repairing pectus excavatum range from internal braces to external braces, metal struts to absorbable struts, and minimal dissection to complete resection. Ravitch describes his technique, which demonstrates resecting the involved costal cartilages, performing a transverse osteotomy of the anterior and posterior table of the sternum, and implanting a wedge bone graft to correct the angulation. Haller has modified this technique to create a "tripod fixation" involving removal of 3-4 overgrown costal cartilages, anterior repositioning of the sternum after osteotomy, and placement of a posterior internal sternal support created by the child's lowest normal ribs. A temporary bar is inserted below the sternum to facilitate anterior sternal displacement. This final step was modified by Hayashi et al to include a vascularized rib graft to replace the temporary metal bar. Poly-L-lactide (PLLA) was instituted by Matsui and has demonstrated good results when used as an absorbable strut to aid in anterior displacement of the sternal plate. PLLA retains 90% of its mechanical strength for more than 3 months after implantation. Controversy over the procedure described by Wada, involving complete resection of the sternum including transection of bilateral IMAs and complete turnover of the entire complex, led Doty and Hawkins and Ishikawa to preserve one or both mammary arteries during this maneuver. The sacrifice of the arteries increases the potential for avascular necrosis and secondary infection of the sternum. Similar to the implanted metal strut described previously, Wolf devised an external modified Jewett brace that would support the sternum after cartilage resection and sternal osteotomy by transcutaneous wires. The advantages to this technique are comparable results, no need for a second major operation to remove the supportive strut, and reduced operative time. The major disadvantage is the cumbersome brace that is worn for 6 weeks postoperatively. c. The initial repair for PC involves removing the affected cartilages and mobilizing the skin and pectoralis muscle flaps. To straighten the sternum, any one of the following surgeries may be performed: an osteotomy a subperichondrial resection of the involved costal cartilages a wedge-shaped osteotomy in the anterior sternal plate Mtt csak komoly pszyches problmk esetn indokolt. Knnyebb, mert a rgzts nem jelent nagy gondot.

Preoperative pectus carinatum surgery

Postoperative pectus carinatum surgery

Postoperative pectus carinatum surgery without brace

d. Primarily, patients with Poland syndrome present for surgical reconstruction to improve physical appearance and correct breast asymmetry. Surgical treatment often consists of reconstruction of the chest wall muscles, breast and nipple on the affected side by a plastic surgeon. Surgery is performed early (age 13) in males. In females, however, surgery is often deferred until breast development is complete. Surgical treatment involves the use of tissue expanders and muscle transfers, to match normal development of the unaffected side, and ultimately of breast reconstruction, with reconstruction of the axillary line and correction of infraclavicular flattening. Patients who present with absent ribs are considered candidates for surgical repair (Townsend, 2004). In such cases, operative reconstruction may eliminate paradoxical motion, improving respiratory impairment. For more severe conditions, reconstructive surgery also provides protection of the underlying heart and lung structures. While there are a variety of surgical techniques to correct the deformity, a common approach is to use the latissimus dorsi muscle with autologous rib grafts to reconstruct the chest wall. Treatment of Poland syndrome is primarily for aesthetic reasons since the functional impairment is minimal. Assess the ipsilateral LDM because it most likely is the donor muscle for transpositional repair. Also, exclude Mbius syndrome by inspecting cranial nerves VI and VII. The mainstay of Poland syndrome chest wall reconstruction involves harvesting the ipsilateral LDM, disattaching it from the lumbodorsal region, and reflecting the muscle about its thoracodorsal pedicle to cover the anterior superior chest wall. In females, since development of the silicone shell saline-filled breast prosthesis, the ability to create a near-normal breast depends on a few factors. Many advocate skeletal reconstruction prior to muscle transposition and soft tissue contouring. This topic is controversial and some studies suggest that mild-to-moderate deformities can be managed satisfactorily by latissimus dorsi transposition alone. If an implant is incorporated into the LDM transposition without prior stabilization of the skeletal structure, a high incidence exists of prosthetic dislodgment and unsatisfactory breast projection and symmetry. The initial step should be reinforcement of the anterior chest wall with a synthetic overlay of Marlex or Prolene mesh prior to muscle flap transposition. At a second operation, the flap and implant are constructed. Most rib cages in patients with Poland syndrome are normal but in those with extreme skeletal deformities, the sternum is rotated considerably toward the deformed side, and the contralateral anterior chest involves a carinate deformity. This correction entails a contralateral subperichondrial split-rib cartilage resection and grafting and sternal osteotomy to allow anterior displacement and orthorotation of the sternum. Two schools of thought exist regarding timing of the operation. Anderl and Kerschbaumer are among the authors that advocate early repair of Poland syndrome. They theorize that muscle transposition at a young age facilitates a patient's learning to use the muscle in its new position and stimulates adjacent skeletal and soft-tissue structures to develop and function normally. Psychological reasons also favor early repair to avoid social and personal image conflicts. In the ideal situation, surgery in young adolescent girls should be postponed until full breast maturity at aged 18 or 19 years, thus minimizing postoperative breast asymmetry. One solution to early operation that maintains breast symmetry, suggested by Argenta et al and Versaci et al, involves using a tissue expander inserted during early childhood that is gradually expanded as the child progresses through puberty. Finally, the expander is replaced by an implant and LDM transposition. Capsular contracture remains the leading cause of asymmetry in these patients.

8. Complication The primary complication encountered with chest wall reconstruction is associated with infection, whether from initial wound contamination and inadequate debridement or secondary infection. Poor planning when harvesting the pedicle flap and careless sacrificing of essential arterial perforators may result in muscle flap necrosis and skin paddle epidermolysis. Closed system drains also are essential for both donor and recipient sites. Infection is controlled with wide debridement and irrigation and coverage with well-perfused viable tissue. Consequently, the incidence of infection associated with allografts and artificial material is higher. Osteomyelitis is also a difficult infection to treat and often requires debridement that may render the defect worse than the initial presentation. Removal of skeletal elements may cause an alteration in pulmonary physiology, thus resulting in respiratory compromise. Extrusion of allografts, primarily the struts and bars made of surgical steels, often is observed with time, especially when the ends of the support are placed beneath a pressure point. Perform shortening, pedicle flap padding, or removal of the prosthesis in these instances. Muscle flap harvest rarely leaves the patient with debilitating functional impairment, yet extensive resection, usually with multiple operations, results in poor cosmetic outcome. Keloid scars and contractures also are observed in a small group of patients but these minor complications are usually subtle compared to the causative insult. Harvest of the serratus anterior muscle for procedures such as thoracoplasty may result in scapular flare. Harvesting muscles closely associated to the thoracic cage presents a slight risk of pneumothorax. Inadequate closure and reinforcement of the abdominal wall fascia after harvest of the RAM has been demonstrated to increase the incidence of abdominal wall hernias. 9. Outcome and prognosis The ideal reconstruction should provide enough stability in the chest wall to allow adequate and spontaneous ventilation, protect intrathoracic organs, and be aesthetically appropriate. Chest wall resection and reconstruction continue to provide a formidable challenge; however, recent surgical techniques have provided ways to repair defects of almost any size with minimal functional impairment. The initial assessment in chest wall reconstruction includes evaluation of the location, extent, and etiology of the defect. Options for soft tissue reconstruction include pedicle flap transposition and microvascular free flap transfer. Defects limited to partial thickness readily are covered with split-thickness grafts provided the recipient bed is vascular. Local muscle or musculocutaneous flaps are reserved for full-thickness transthoracic wall defects, often related to extensive debridement from osteomyelitis or osteoradionecrosis. Extensive full-thickness defects requiring skeletal support often are treated with whole or split grafts, which are preferred for elective sterile defects. Allografts such as Marlex, GoreTex, and Prolene mesh can provide stability and support for complex defects. Free flap tissue transfer usually is left as a last option when local or musculocutaneous flaps are unavailable. With a given chest wall defect, it is critical that the surgeon properly devise a plan that balances function, durability, and aesthetics in the reconstructive effort. 10. Summary A review of current professional society recommendations and policy statements (American Thoracic Society, American Academy of Pediatrics) does not confirm the existence of established guidelines for treatment of congenital chest wall deformities. Regarding breast augmentation in teenagers, the American Society of Plastic Surgeons (ASPS) does have a policy statement that supports breast augmentation for reconstructive purposes related to congenital defects (ASPS, 2004). II. A vllv fejldsi rendellenessgei 1.Scapula elevata /Sprengel-deformits/: - 20A ttel Mk.nemben elfordul. Ktoldali ritka. Etiopatologia: Oka, hogy a vllv nem szll le. Izmok ennek megfelelen rendellenes lefutsak, megnyltk v.rvidek nha fibrosis. Omovertebrlis hd lehet az als nyaki csigolyk fel. Lapocka kisebb, szlesebb. Tnetek: - lapocka s vll magasabban ll - lapocka rotlt helyzetben - kar elevatioja akadlyozott Mtti kezels tbbnyire kozmetikai okokbl indokolt. Lehet: - angulus superior resectio - teljes scapula lejjebb helyezs - tbbnyire hosszanti osteotomia s lat.db.eltols

- omovertebrlis csont resectio 2. Klippel-Feil sy. /homme sans cou, rvid nyak/: Ritka cong. rendellenessg a nyaki gerincen s a vllakon. Etiopatologia: nem egysges. alapvet a nyakcsigolyk segmentldsnak zavara. Ehhez trsul a vllvek leszllsnak zavara. Tnetek: - rvid nyak - nyaki pterygium ktoldalt - hajvonal mlyen, scapulk magasan - beszklt nyakmozgsok, esetleg torticollis - gyki tnetek Rtg.: - nyaki csigolyk synostosisa - csigolyatest deformitsok, scoliosis - spina bifida - foramen szklet Kezelst csak gyki tnetek esetn vagy degeneratv problmk miatt ignyel. Esetleg kozmetikai mtt. a. Bevezetes In 1912, Maurice Klippel and Andre Feil were independently the first to describe Klippel-Feil syndrome. They described patients who had a short neck, decreased range of motion (ROM) in the cervical spine, and a low hairline. Feil subsequently classified the syndrome into 3 categories. Type I is described as a massive fusion of the cervical spine. Type II is present when the fusion of 1 or 2 vertebrae occurs. Type III occurs when thoracic and lumbar spine anomalies are associated with type I or type II Klippel-Feil syndrome. Patients with Klippel-Feil syndrome usually present during childhood but may present later in life. The challenge to the clinician is to recognize the associated anomalies that can occur with Klippel-Feil syndrome and to perform the appropriate workup for diagnosis. b. Frequency: The true incidence of Klippel-Feil syndrome is unknown. No one has ever studied a cross-section of healthy people to determine the true incidence. The incidence of Klippel-Feil syndrome has been investigated in 2 studies, using 2 different means. Gjorup reviewed all of the radiographic cervical spine films in a single hospital in Copenhagen. From these radiographs, he determined an incidence of 0.2 cases per 1000 people. Brown reviewed 1400 skeletons from the Terry collection at Washington University School of Medicine. He found an incidence of 0.71%. c. Etiology: The etiology of Klippel-Feil syndrome and its associated conditions is unknown. The syndrome can present with a variety of other clinical syndromes, including fetal alcohol syndrome, Goldenhar syndrome, and other anomalies in the extremities. Gunderson suggested that it is a genetic condition, while Gray found a low incidence of inheritance. Others have considered it to be some type of global fetal insult, which could explain the other associated conditions. Others have considered it to be caused by vascular disruption. The true etiology has yet to be determined. d. Clinical: Clinical presentation is varied because of all of the associated syndromes and anomalies that can occur in patients with Klippel-Feil syndrome. A complete history and careful physical examination may reveal some associated anomalies. From an orthopedic standpoint, most of the workup is with imaging. The condition is detected throughout life, often as an incidental finding. Patients with upper cervical spine involvement tend to present at an earlier age than those whose involvement is lower in the cervical spine. Most patients present with a short neck, decreased cervical ROM, and a low hairline, which occurs in 40-50% of patients. Decreased ROM is the most frequent clinical finding. Rotational loss usually is more pronounced than is the loss of flexion and extension. Other patients present because of cosmesis or facial asymmetry. Neurological problems may develop in 20% of patients. Pouliken found that 5 of 19 patients with Klippel-Feil syndrome had neurological involvement; of these 5 patients, 2 had neurological problems due to hypermobility at one level. Occipitocervical abnormalities were the most common cause of neurological problems.

Some patients present with pain.

Picture 1. An anomaly of the occipitocervical junction in a patient with Klippel-Feil syndrome. The anomaly was unstable and was fused.

Picture 2. Posterior photo of a patient with Klippel-Feil syndrome and an anomaly of the occipitocervical junction. The image shows an elevated left shoulder due to a Sprengel anomaly, a short webbed neck, and a low hairline.

This patient has Klippel-Feil syndrome and an anomaly of the occipitocervical junction. The patient's flexion and extension after the occipitocervical fusion is demonstrated. His rotation was very limited. Klippel-Feil syndrome. Flexion of the cervical spine in a patient who had an occipitocervical fusion. Hensinger and colleagues described the constellation of anomalies that can occur with Klippel-Feil syndrome, and others have added to this list. Scoliosis occurs in approximately 60% of patients (see Images 5-6). In some patients, this is congenital scoliosis (see Image 7) due to the involvement of other parts of the thoracic or lumbar spine. Other patients develop compensatory scoliosis in the thoracic spine to compensate for the cervical or cervicothoracic scoliosis. In addition to the fusion anomalies in the cervical spine, cervical spinal stenosis can occur. While uncommon, this can increase the risk of neurological involvement. Anomalies of the craniocervical junction can cause instability at lower segments. Traumatic tetraplegia has been reported following minor trauma. A Sprengel anomaly occurs in 20-30% of patients (see Image 7). Always check ROM of the shoulders. Look for an omovertebral bone (see Image 8). This is an osteocartilaginous connection that tethers the scapula to the spine. An omovertebral bone ossifies with age, further limiting the ROM. A CT scan best demonstrates an omovertebral bone; however, palpation or radiographs also can detect an omovertebral bone. Other upper extremity anomalies occur less frequently. A thorough examination of the ROM and function of the upper extremity must be performed.

Picture 5. Anteroposterior radiograph of a patient with Klippel-Feil syndrome showing multiple congenital anomalies and cervical scoliosis

Picture 6. Lateral radiograph of a patient with Klippel-Feil syndrome showing 2 fused segments separated by an open segment. Picture 7. This anteroposterior radiograph of the spine in a patient with Klippel-Feil syndrome demonstrates congenital scoliosis and a Sprengel deformity.

Picture 8. Klippel-Feil syndrome. This radiograph demonstrates an omovertebral bone marked with 2 arrows. This anomaly limits cervical spine motion Synkinesia is mirror movement of the upper extremity. Patients with this condition are unable to perform a movement of the right hand without performing the same movement of the left hand (see Image 9). This is disabling in activities of daily living (ADL). Synkinesia often may be improved with therapy and usually improves with age. Picture 9. Klippel-Feil syndrome. This photo demonstrates synkinesia. As the patient attempts to oppose

the thumb and finger of the right hand, the same movement occurs involuntarily in the left.

Picture 10. Klippel-Feil syndrome. This intravenous pyelogram was preformed before ultrasound was available to image the kidneys. Note unilateral absence of the left kidney.
Renal anomalies are common in individuals with Klippel-Feil syndrome, and they can be quite serious. Hensinger reviewed 50 patients, and 41 of them had an intravenous pyelogram (IVP). Renal anomalies were present in 16 (34%). Minor renal anomalies were detected in 6 individuals, including a double collecting system, renal ectopia, and bilateral tubular ectasia. Major renal anomalies were detected in 10 individuals, including hydronephrosis, absence of a kidney (see Image 10), and a horseshoe kidney. As Hensinger notes, the patient of Klippel and Feil died of renal failure and uremia. Patients with Klippel-Feil syndrome now have ultrasound as the initial test to demonstrate the presence of 2 functioning kidneys. Torticollis and facial asymmetry occur in 21-50% of patients with Klippel-Feil syndrome. These patients also may have a muscular torticollis. Craniofacial anomalies also can occur. Hearing loss is common with Klippel-Feil syndrome. The hearing loss can be sensorineural, conductive (one third of cases), or mixed. Hensinger found the incidence of hearing loss to be 36%. Early audiometric evaluation and otologic evaluation are indicated in all children when the diagnosis of Klippel-Feil syndrome is established. Cardiovascular anomalies occur in 14-29% of cases. The most common cardiovascular defect is an interventricular septal defect. Other less common anomalies are congenital limb deficiencies, craniosynostosis, ear abnormalities, iniencephaly, and craniofacial abnormalities.

e. Indikacio Patients with Klippel-Feil syndrome present at different ages with varying clinical presentations. Indications for the complexity of the workup vary individually. For the orthopedic surgeon, the most usual indications for surgery depend upon the amount of deformity, its location, and its progression with time. Other indications include instability of the cervical spine and/or neurological problems. These indications can occur with craniocervical junction anomalies and also when 2 fused segments are separated by a normal segment. Some patients present early in life with complex cervical and cervicothoracic deformity that is progressive and disfiguring. Some of these patients require cervical spine fusions to prevent progression. Other patients may develop compensatory or associated congenital scoliosis, which also can be progressive over time and requires fusion to prevent progressive deformity. Over one half of the patients in Hensinger's study had scoliosis. Treatment of the scoliosis with bracing or surgery was required in 18 of the 50 patients. f. Contraindications: Since this is a syndrome with a constellation of possible abnormalities, no set of definite contraindications exists. If a surgeon believes that an operation is indicated, it is incumbent upon him/her to make certain none of the other conditions that could cause morbidity or mortality are present. Cervical or occipitocervical instability could cause increased risk during intubation. An underlying heart defect could increase anesthetic risk. An increased risk of neurologic damage during spinal fusion for correction of deformity could result from underlying spinal stenosis or spinal cord abnormality. A thorough workup of the patient is imperative prior to surgical intervention.

g. Imaging Studies: Plain radiography is the basis for the diagnosis of Klippel-Feil syndrome. o Initial studies include anteroposterior (AP) and lateral views of the cervical spine. o If anomalies are found, carefully assess the craniocervical junction to detect anomalies at that level. o Flexion-extension radiographs are indicated if instability is suspected at the craniocervical junction or if 2 fused segments are separated by an open segment. o Obtain plain radiographs of the entire spine to detect other spinal anomalies. o Examine the chest to rule out involvement of the heart. Examine the chest wall for the possibility of rib anomalies, which can include multiple rib fusions. Rib fusions can be revealed with plain radiography. CT scan often is more useful at the spinal level. o For patients being evaluated for surgery, CT scan with 3-dimensional reconstruction can be a very valuable tool to assess the anatomy. o A unilateral unsegmented bar or cervical stenosis may be revealed on a CT scan, which helps the physician plan the surgical procedure. MRI o MRI is indicated in patients with neurological deficits. o Flexion-extension MRI may reveal cord compression and is useful in evaluating spinal stenosis. o In patients with neurological deficits, obtain an MRI of the entire spine to search for central nervous system anomalies, such as a syringomyelia. Ultrasound initially is performed to visualize the kidneys. Perform intravenous pyelography if any kidney abnormality is suspected with ultrasound. Other Tests: o Due to the high incidence of hearing loss with Klippel-Feil syndrome, an audiologist or an otologist should evaluate all children. f. Medical therapy: Medical therapy is dependent upon the congenital anomalies present in the syndrome. Primary care physicians may not be familiar with all of the possible associated anomalies. Patients with genitourinary abnormalities are referred to a nephrologist or urologist. Patients with cardiovascular abnormalities are cared for by a cardiologist or primary care physician. Patients with auditory abnormalities are referred to an audiologist or otologist. g. Surgical therapy: Surgery is indicated for a variety of situations in patients with Klippel-Feil syndrome. Due to fusion anomalies and the difference in growth potential between the 2 sides of the spine, deformity may be progressive. Instability of the cervical spine can develop because of craniocervical abnormalities. Instability of the cervical spine also can develop between 2 sets of fusion anomalies separated by normal segment. NEUROLOGIC DEFICITS OR PERSISTENT PAIN ARE INDICATIONS FOR SURGERY. Development of a compensatory curve in the thoracic spine may require surgical intervention or bracing. Symptomatic spinal stenosis may require decompression and fusion. Koop and colleagues studied 13 cases of children who were skeletally immature with a variety of disorders that caused instability of the upper part of the cervical spine from the occiput to C5. These researchers were looking at the efficacy of posterior arthrodesis and halo-cast mobilization. Many of these patients did not have Klippel-Feil syndrome, but the surgical indications were instability. Posterior arthrodesis with external mobilization by halo-cast was carried out. In 2 of the patients, internal fixation with wire was utilized. A solid arthrodesis was obtained in 12 patients treated with autogenous bone graft. One patient treated with allograft rib developed a pseudoarthrosis. Koop et al cautioned that the use of wires for fixation carries risk of neural injury and often is not applicable in children with anomalous vertebra. They stress the need for delicate exposure, decortication using an air drill, and placement of autologous iliac graft. They recommended mobilization by halo-cast, which they thought would minimize the risk of neural damage and provide a reliable means of obtaining arthrodesis. Preoperative details: Patients must have a comprehensive workup to detect the anomalies previously mentioned. Adequate imaging studies must be obtained. Three-dimensional CT scan reconstruction often is useful. h. Outcome and prognosis

The prognosis for Klippel-Feil syndrome depends on the potential anomalies. Careful evaluation, consistent follow-up, and coordination with other providers are required to avoid pitfalls and to avoid missing any diagnoses. i. Future and controversies The true etiology and incidence of Klippel-Feil syndrome is unknown. The syndrome can occur in association with a wide variety of anomalies. Further studies may reveal the cause. The cervical anomaly is a failure of segmentation that occurs in early fetal life. To discover a cause and devise prevention or treatment is a challenge. 3. Cong.vllficam: Ritka. Esetek egy rszben ktoldali. Oka szlsi trauma vagy paralysis lehet. Legjellemzbb tnete a vllmozgsok beszklse v. instabilits. Rtg.-n a rendellenes helyzet fej s a sekly fossa ltszik Kezelse: mtti repositio, tokraffols, nthelyezs. The existence of congenital dislocation of the glenohumeral joint is controversial because dislocations in infants have been uniformly associated with obstetrical paralysis or fracture during delivery. Few reports exist of infants with glenohumeral joint dislocation but no evidence of fracture or obstetrical paralysis. Infants with obstetrical paralysis should be followed and observed for the development of glenohumeral dislocation during the first year of life, since delayed dislocation of the shoulder and late diagnosis result in more complex intervention with greater morbidity. 3. Congenital Hypoplasia of the Glenoid Failure of formation of the lower glenoid epiphysis is rare and results in hypoplasia of the glenoid. Occasionally, the upper glenoid epiphysis may be involved. Congenital hypoplasia of the glenoid is frequently bilateral and may exist as an isolated finding. It may also exist as a component of Cornelia De Lange syndrome, Holt Oram syndrome, Aperts syndrome, Hurlers syndrome or multiple epiphyseal dysplasia. In addition, glenoid hypoplasia may develop secondary to obstetrical palsy. Most young patients are asymptomatic but, with increasing age, shoulder instability may develop with eventual fixed dislocation, limitation in motion and functional impairment. If recurrent shoulder dislocation which is usually posterior develops, osteotomy of the glenoid neck with bone graft augmentation and glenoid reorientation is indicated to restore stability. 4. Cong.clavicula lizlet: ltalban jobb oldalon, ms fejldsi rendellenessgek nlkl. let elrehaladtval nvekszik, de funkci zavart s panaszokat tbbnyire nem okoz. Tnetek: - mozgathat, fjdalmatlan fragmentumok - clavicula kzepn eldomborods - vll keskenyebb Traums anamnzis nincs, szletskor mr fennll. kozmetikai okokbl operland, fleg lnyoknl, 10 ves kor alatt. Csontgraft behelyezs s fixatio a megolds. a. Bevezets Congenital failure of the clavicle to form is rare. Fewer than 200 cases have been described in the English literature. A painless mass over the right clavicle is the most common finding that prompts parents to seek consultation with a physician. Treatment may consist of mere observation or resection of the pseudoarthrosis and osteosynthesis. b. History of the Procedure: In 1930, Saint Pierre reported congenital failure of clavicle formation. In 1963, Alldred reported 9 cases of congenital pseudoarthrosis of the clavicle. Surgical intervention generally is recommended due to shoulder girdle hypermobility and an unsightly mass. Both problems can be treated by open reduction, resection of the pseudoarthrosis, and bone grafting. Resection alone produces pain. c. Problem: Congenital failure of formation (ossification) of the central portion of the clavicle produces a prominence in the right anterior superior chest in the absence of trauma. The resultant synovial pseudoarthrosis is usually right-sided, prominent, and painless. Functional impairment is uncommon in children. d. Frequency: Congenital pseudoarthrosis is rare. Fewer than 200 cases have been reported in the English literature. The exact incidence and prevalence are unknown. The abnormality occurs almost entirely on the right side. Involvement of the left side usually occurs with dextrocardia and situs inversus. Bilateral cases are rare. Bilateral cases are typically reported with genetic syndromes.

e. Etiology: The etiology is unknown. No relationship with neurofibromatosis has been demonstrated. Abnormalities of angiogenesis of the aortic arch have been postulated. This explains, in part, right-sided distribution. Failure of coalescence of the two primary ossification centers contributes to the pathology. Left-sided involvement is seen in patients with dextrocardia and situs inversus. Bilateral cases can occur. The incidence of associated cervical ribs is 15%. Spontaneous healing is extremely rare. f. Pathophysiology: Congenital pseudoarthrosis of the mid portion of the clavicle occurs when an environmental insult or anatomic or mechanical event disrupts diaphyseal membranous ossification. In congenital pseudoarthrosis of the clavicle, the two primary ossification centers fail to unite. The two portions of the clavicle produced are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops. The predominance of right-sided involvement in the absence of situs inversus suggests that the vascular anlage of the subclavian artery that crosses the first rib just below the pseudoarthrosis site may be involved in the etiology. Congenital pseudoarthrosis has never been associated with malignant degeneration. g. Clinical: A painless mass or swelling over the clavicle is the usual presenting concern. The patient has no history of trauma, and shoulder and arm movement are normal. A family history of similar deformities is rare. Neurofibromatosis rarely is an associated diagnosis. In older children, pain is infrequent but may occur. In the typical presentation, the larger sternal side is tilted anteriorly and superiorly, and the smaller acromial portion curves gently to meet the pseudoarthrosis. The mass usually is painless, range of motion is full, and function is normal. Caf au lait lesions are usually not seen. h. Indications for intervention include pain, shoulder girdle instability, and altered self-esteem secondary to an unsightly appearance. i. Relevant Anatomy: The clavicle is the first bone to undergo membranous ossification. It connects the sternum to the acromion and provides support for shoulder function. j. Contraindications: No major contraindications to intervention exist. However, internal fixation may be compromised due to the size of the patient (and the clavicle). k. Kivizsgls Lab Studies: In general, laboratory studies are not necessary. Genetic testing is indicated in bilateral cases in which a syndrome is suspected. Imaging Studies: Plain radiographs o Anterior, posterior, and apical lordotic views usually are sufficient. o Pseudoarthrosis of the mid clavicle on the right is easily visualized and has a characteristic pattern with anterior and superior tilting of the sternal half and a smaller acromial portion. MRI o MRI may be used to determine the extent of the fibrous union, the location of the great vessels, and the space available within the thoracic outlet. o MRI rarely is indicated. Histologic Findings: Histologic findings consist of synovial-lined pseudoarthrosis. l. Medical therapy: Mere observation may be appropriate. No nonoperative techniques achieve union. m. Surgical therapy: Surgical intervention is indicated for pain, appearance that negatively impacts self-esteem, and shoulder deformity interfering with function. Preoperative details: After taking a general history and performing a physical examination, evaluate the right upper extremity for range of motion, stability, and neurovascular function. The patient should be prepared for surgery and the entire right upper limb prepared free to facilitate mobilization of the clavicle and to observe for neurovascular problems. Prophylactic antibiotics are appropriate if internal fixation is employed. A semisitting or beachchair position may be helpful to obtain exposure. Intraoperative details: Surgical steps are as follows: Expose the clavicle through a transverse incision. Control bleeding with electrocautery. Expose the medial and lateral clavicle subperiosteally, excise the sclerotic ends, and resect the pseudoarthrosis. Determine if end-to-end repair is possible. If not, use a bone graft. Apply an appropriate-sized compression plate.

 Reapproximate the periosteum. Close the wound in layers. Postoperative details: Postoperatively, the patient is immobilized in a sling and swath, or alternately, a shoulder spica may be used for small children if internal fixation is inadequate. The clavicle is protected until union is confirmed clinically and radiographically. n. Komplikcik The major surgical complication is failure of the clavicle to unite. However, in contradistinction to congenital pseudoarthrosis secondary to neurofibromatosis, union is common. Hardware is removed if painful or unduly prominent. Neurovascular injury is rare but may occur. Infection may occur in the postoperative period. o. Prognosis The outcome is usually excellent, with prompt healing, few complications, and normal function. p. Ellentmondsok In the future, the true etiology of congenital pseudoarthrosis may be delineated, and its predilection for the right chest will be understood. It is likely that injection with osteoinductive material will convert the pseudoarthrosis to normal membranous ossification or that the application of external bonestimulating devices will induce osteoprogenitor cells to replace the pseudoarthrosis with normal bone. 5. Cleidocranial dysostosis: Familiris, dominns rklds, veleszletett csontosodsi zavar, mely az let els kt vben manifesztldik. A clavicula teljes vagy rszleges, egy vagy ktoldali aplasija trsul hozz. E miatt a vllak hypermobilisak. Egyb tnetek: - nagy fej, kis arc, tvoli szemek - szles koponyavarratok - ksi fogzs,persistl tejfogak,microdont. - izleti lazasg,scoliosis - V.ujj kzpperc dysplasia a. Background and General Features Cleidocranial dysplasia affects the growth of many parts of the skeleton, primarily BONES OF MEMBRANOUS ORIGIN. Classic features of cleidocranial dysplasia include widening of the cranium and dysplasia of the clavicle and pelvis. The incidence is approximately 1 in 200,000 individuals. Cleidocranial dysplasia is transmitted as an autosomal dominant condition. The defect occurs in the Runx2/Cfba1 gene on chromosome 6, which encodes an osteoblast-specific transcription factor required for osteoblast differentiation. b. Clinical Features Although the term cleidocranial dysplasia suggests that only the clavicle and cranium are affected, other abnormalities result from this condition. Patients with cleidocranial dysplasia have mildly to moderately diminished stature, with most male patients and some female patients below the fifth percentile of normal stature for their age. The mean adult height for men is 64 inches. Hypertelorism and bossing in the frontal, parietal, and occipital regions occur in patients with cleidocranial dysplasia (Slide 1). The maxillary region is underdeveloped, causing apparent exophthalmos and maxillary micrognathism. Cleft palate and dental abnormalities are common. In patients with cleidocranial dysplasia, the clavicles are partially or completely absent. The clavicles are completely absent in approximately 10% of patients. The absence of clavicles causes the shoulders to drop and the neck to appear longer. The classic diagnostic feature is that the shoulders can be approximated together, a feature that helped one college wrestler escape holds. The pelvis is narrow, and the hips are occasionally unstable at birth. Coxa vara may occur, causing limitation of abduction and a Trendelenburg gait (Slide 2). An increased incidence of scoliosis occurs in patients with cleidocranial dysplasia, often taking the form of a double thoracic curve. Syringomyelia (fluid-filled space in the spinal cord) has been reported in several patients with

cleidocranial dysplasia and scoliosis. For this reason, magnetic resonance imaging should be performed in patients with cleidocranial dysplasia who have progressive scoliosis. c. Radiographic Features A prenatal radiographic diagnosis may be made on the basis of small or absent clavicles. Graphs showing normal clavicular size for age during gestation are available. If uncertainty about clavicular size exists, then a molecular or prenatal diagnosis may be performed. If a portion of the clavicle is present, then it is usually the medial end. The skull of a newborn with cleidocranial dysplasia has the maturation of a 20-week-old fetus. Wormian bones, which are inclusions or islands of bone within the cranial sutures, are present in the skull. The anterior fontanelle may be open in adulthood. In the vertebral column, spina bifida occulta and spondylolysis are common. The pelvis is narrow and shows widening of the triradiate cartilage, delay in pubic ossification, and progressive deformation of the base of the femoral neck into varus with a triangular metaphyseal fragment typical of coxa vara. Skeletal maturation may be delayed. d.Orthopedic Implications No treatment is indicated for the clavicles. In fact, significant functional disability from cleidocranial dysplasia has not been reported. The coxa vara may be treated by valgus-rotational osteotomy if the neck shaft angle is less than 100. If the patient has acetabular dysplasia, then this condition should be corrected before the coxa vara. Scoliosis should be treated according to usual guidelines. Magnetic resonance imaging should be performed if the curve is progressive because of the increased risk of syringomyelia. Degenerative disease of the hips is sometimes seen in later adulthood. 6. Deltoid fibroticus elteresei A m. Deltoideus helyen rovid, fibroticus nyalab talalhato es ez abductios contracturat eredmenyez a vallban. Ha a karokat adducaljuk, akkor a scapula elevatioja es eloemelkedese figyelheto meg. Gyakran szukseges a sebeszi rezekcio. a. Bevezets Deltoid fibrosis is a muscle disorder marked by intramuscular fibrous bands within the substance of the deltoid muscle. These bands lead to secondary contractures that affect the function of the shoulder joint. Scapular winging and secondary scoliosis also may be related to this condition. Deltoid fibrosis has been associated with fibrous contractures of the gluteal and quadriceps muscles and is likely a similar process. b. History of the Procedure: Reports of deltoid fibrosis began in the early 1960s. I Isolated descriptions of the condition had been documented prior to that but not in the English literature. Following World War II, parenteral administration of antibiotics, antipyretics, and other drugs became increasingly common. Along with the increased use of intramuscular injections came the appearance of deltoid fibrosis and contractures, as well as problems in other muscle groups. c. Problem: Deltoid fibrosis is part of a spectrum of fibrotic conditions that affect both upper and lower extremities. Deltoid fibrosis is seen in people of all ages but primarily has been reported in children. The condition may involve one extremity or, in rare cases, may involve all 4 extremities. Contractures of the muscle may limit function or may cause significant social unease due to the function of a limb. d. Frequency: Incidence in the United States has been low. Several reports of small groups of patients with the condition have been made, but no large series have been reported. All of the large series on this condition are from abroad. In certain areas of the world, contractures that developed became endemic. This caused significant social problems, resulting in litigation in some districts in Japan. In Taiwan, the condition was endemic, with a prevalence rate of 10% in some areas. Etiology: The most common cause of deltoid fibrosis has been related to postinjection changes occurring in the deltoid muscle. Multiple drugs have been implicated as causing the contracture, including dramamine, iron, penicillin (crystalline and oily), lincomycin, pentazocine/Talwin, hypodermoclyses, streptomycin, tetracycline, vitamins, and antipyretics. Why some children and adults develop this condition is unknown. Most siblings of children with deltoid fibrosis do not develop this condition even if they have had a similar number of injections. Chen reported on a series in which there was a 30% incidence in siblings. Chattergee and Gupta reported on a group of 17 patients from Calcutta that belonged to a certain segregated patriarchal ethnic group. They noted that children from other communities in central Calcutta did not develop deltoid fibrosis. These findings, as well as those from Taiwan and Japan, suggest the existence of a constitutional and/or predisposing factor in the etiology of contractures.

e. Pathophysiology: The deltoid muscle has 3 areas of origin: the clavicle, the acromion, and the scapular spine. There is one site of insertion, the deltoid tubercle on the humerus. The anterior and posterior portions converge directly into the insertion site, whereas the middle portion is multipennate. The middle portion has 4 intramuscular septa that extend distally from the lateral acromion. They interdigitate with 3 septa that arise from the deltoid tubercle. The main action of the deltoid is abduction of the arm. The anterior deltoid also assists in forward flexion and internal rotation. The posterior portion assists with extension and external rotation. Contractures of the deltoid have been reported in all 3 portions. They most commonly are seen in the middle portion. The second most common site for contracture is the posterior portion. These areas are involved most commonly because injections are placed there to avoid the cephalic vein anteriorly. Anterior bands occasionally are seen. Two portions, or even all 3 portions, have been reported to be involved with contracture. Electromyelogram (EMG) findings have shown no activity in the involved muscle, but nerve conduction studies have been normal. Chen has shown that EMG abnormalities are observed not only in the involved muscle, but also are seen in uninvolved muscles. This may suggest that the muscle initially is abnormal and is especially susceptible to injury and development of fibrosis. Chen has proposed 3 possible mechanisms for the development of deltoid contractures. These mechanisms are as follows: Direct disruption of the muscle by needle injection or myotoxicity related to the injected drugs Myoischemia due to the volume of the injection, with local edema, fibrotic compression, and vascular damage (Tissue edema promotes fibroblast activity and collagen production.) Fibrotic compartmentalization of muscle tissues, which may cause myoischemia and entrapment neuropathy (Denervation may occur during the fibrotic process, with damage to the distal nerve fibers or motor end-plates.) Repeated injection injuries and/or myotoxicity are believed to be the first triggers of the fibrotic deltoid contracture, resulting in focal myositis and subsequent myopathic degeneration processes. The denervation changes are a simultaneous process resulting from fibrotic compression or ischemia. Also, it is likely that injury occurs in the connective tissue as well as in muscle. This could be caused by an abnormal enzyme deficiency in the mechanism of collagen degradation, an increased rate of collagen synthesis, genetic defects in the regulation of collagen biosynthesis, or an enzymatic defect in fibroblasts. Some or all of these factors undoubtedly are at work, independent of the muscle injury scenario, as almost all series of deltoid fibrosis include patients who do not have a history of injections to the involved muscle. f. Clinical: History History of injections in and around the site of involvement Similar contractures in other parts of the body Family history of similar contractures Significant limitation of the activities of daily living (ADL) Physical examination Examine neck motion, looking for Sprengel deformity and other congenital abnormalities Examine shoulder and upper extremity to evaluate glenohumeral and scapulothoracic motion and stability Assess for winging of the scapula and freedom of scapular motion Look for evidence of contractures elsewhere in both the upper and lower extremities Perform complete neurovascular examination Examine thoracic and lumbar spine, looking for scoliosis or chest wall abnormalities The contracted portion of the deltoid affects the problems encountered by the patient. Most contractures are full thickness, although a small group of individuals with only undersurface bands experienced resultant impingement and rotator cuff tearing. Individuals in this group were skeletally mature. The shoulder is abducted when only the middle portion is involved. If the anterior portion is involved, the arm assumes a flexed and abducted position. If the posterior portion is involved, the arm is extended and abducted. As the arm is progressively extended or flexed, subluxation of the humeral head may occur. Recurrent dislocation has been reported, as well as chronic labral injury. Radiological evaluation of glenohumeral joint stability may be difficult because of changes in scapular position causing a relative overlap of the glenoid and humeral head. CT scanning may be required to adequately evaluate the status of the glenohumeral articulation.

In patients who are skeletally immature, flattening of the humeral head and changes in acromial morphology (drooping) may be seen. As the abduction contracture increases, the weight of the arm causes the inferior border of the scapula to rotate medially, resulting in winging of the scapula. Frequently, the skin may dimple, and a fibrous band is palpated. Muscle aching about the shoulder girdle frequently accompanies the winging. Secondary scoliosis related to more severe abduction contractures has been reported. Individuals usually present with inability to move the arm across the body. Abduction of the arm releases the tension of the fibrous band and allows cross-body movement. g. Surgical treatment has centered on the release of the contracted fibrous bands. The most commonly reported indications for surgical treatment are cases in which the abduction contracture at rest is greater than or equal to 25. Patients should be at least 5 years old and should show evidence of progressive deformity during growth or changes in bony anatomy (eg, head flattening, changes in acromial morphology, widening of the acromioclavicular joint, scoliosis, narrowing of the thoracic cage). Most of these bony abnormalities may be exaggerated or underestimated, depending on the radiographic imaging method used and whether the bones are positioned adequately. Fluoroscopic radiographs or CT scans may be required to fully appreciate the specific deformity. Ogawa has reported that the humeral head deformity remained in juvenile cases, despite resolution of the abduction contracture by operation. Therefore, deltoid contracture in the young patient should be treated surgically when the patient is at an age that allows spontaneous correction of the bony deformity with growth. This decreases the risk of late arthritic changes due to humeral head incongruence. No significant bony abnormalities were reported in adults. Hypertrophy of the deltoid tuberosity and cystic lesions of the acromion have been reported, but no specific bone or joint abnormalities have been reported in adults. Indications for surgical treatment in adults should be based on symptoms of pain in the neck and shoulder girdle and limitations in ADL. h. Contraindications: The usual contraindications for surgery apply, such as general health considerations that would make the patient unsuitable for a general anesthetic. Local problems with the skin and soft tissues preclude surgical treatment. No other specific contraindications exist. i. Lab Studies: No specific laboratory studies have been helpful in the evaluation or treatment of deltoid fibrosis. j. Imaging Studies: Plain films - Used initially Fluoroscopic examination o Used if there are any questions on plain films o Used to carefully evaluate the glenohumeral and scapulothoracic mechanics CT scan o Used if fluoroscopy does not fully elucidate the bony abnormality o Also may be required to evaluate specific bony changes that have occurred due to abnormal positioning of the joint o Provides most reliable evaluation of position of the humeral head in relation to the glenoid k. Other Tests: No other specific tests have been shown to be beneficial. l. Diagnostic Procedures: EMG testing may have some value from a research standpoint, but it has not been used routinely as a part of patient evaluation. m. Histologic Findings: In all reports, the histology of this condition has shown dense fibrous tissue with some atrophied muscle fibers. n. Medical therapy: Medical treatment has involved observation only, stretching, nonsteroidal agents, and some forms of physical therapy. None of these treatments has been shown to be effective. o. Preoperative details: In managing contractures, it is important to know the specific area of contracture to plan the appropriate approach. A single band could be approached from a proximal or distal incision. Fibrosis of more than one portion of the deltoid is best approached through a distal incision. p. Intraoperative details: Most reports reveal the use of proximal incisions to expose the acromial attachment of the bands. This area has been exposed through transverse or longitudinal incisions.

Transverse incisions have been associated with keloid formation and unattractive scars. Longitudinal incisions may not allow adequate exposure of the entire deltoid area and may require multiple incisions to perform adequate releases. Proximal release or resection of the bands may leave large gaps in the muscle and may be associated with a cosmetic staircaselike deformity. This results in loss of the natural roundness of the lateral aspect of the shoulder muscle. Minami described transferring a portion of the posterior deltoid anteriorly and laterally to fill the gap. He did not report any failures with this technique. In dealing with anterior contractures, Groves reported transferring the conjoined tendon of the coracobrachialis along with the short head of the biceps to fill the defect in the deltoid. The tendons were attached to the anterior acromion (limited Ober procedure). Following release or resection of the fibrous bands, perform testing of shoulder motion. Occasionally, further release of smaller secondary bands is required, or gentle manipulation of the shoulder is necessary to regain full motion. When the bands involve more than one portion or all of the deltoid, simple band release or excision is not an option. Manske reported on a case that involved the entire deltoid. Instead of a proximal release, he used a distal incision about the deltoid tubercle, releasing the entire deltoid tendon from the tubercle. This approach yielded an excellent result. Subsequent to that report, Ko and Chen have reported larger series using distal release. Their reports noted excellent results as well. q. Postoperative details: Following proximal release, Minami advised using a stockinet on the arm and tying the hand to the opposite shoulder to keep the arm in an adducted position. Exercises to regain motion were initiated after 10 days. Bhattacharyya also advocates this approach. Manske advocates the use of a plaster dressing to keep the arm at the side for 5 weeks, followed by an active exercise program. Hang reports the use of early motion without immobilization and full motion of shoulders at 2-year follow-up. Following distal release, Chen started immediate range of motion (ROM), encouraging forced adduction. Ko also started early ROM using a sling for comfort. In reviewing these studies, it seems that a short period of immobilization to allow for skin healing and early mobilization do equally well. Prolonged immobilization does not appear to be required. r. Complication Keloid formations resulting from proximal transverse incisions are the most common problems reported. Neurovascular injury, infection, or other significant complications have not been reported. s. Outcome and prognosis Several series have reported about a 6% incidence of recurrence. With distal release, Chen reports 100% good results, and Ko reports 96% good results regarding ROM and pain relief. Patients who had distal release were evaluated with a Cybex dynamometer and were found to have no loss of strength as compared to the opposite side. Function had returned to normal within 3 months. In general, the degree of preoperative contracture did not correlate with the postoperative result. Whether the shoulder is treated with proximal or distal release, it appears that the rate of complications is low and that the great majority of patients can expect a return to close-to-normal ROM, excellent pain relief, and a resolution of scapula winging. Proximal release can be used if there is one band, but if more than one portion of the deltoid is involved, distal release should be used. As results of distal release are as good as those of proximal release, distal release perhaps should be considered routinely. Distal release avoids the stairstep deformity associated with a proximal approach. t. Future and controversies Deltoid fibrosis is an uncommon problem. In children, it is related to congenital or developmental defects or to intramuscular injections. Patients who develop contractures following injection probably have an inherent predisposition for development of fibrosis. In adults, contractures all seem to be related to injections. In Japan, Ogawa has reported that with the exception of a few adult cases, no new cases of deltoid contracture have been reported since the danger of intramuscular injection was reported in 1975. Therefore, except for a few isolated cases, deltoid fibrosis may become a problem primarily of historical interest. Forrs: I. http://www.cigna.com/health/provider/medical/procedural/coverage_positions/medical/mm_0 309_coveragepositioncriteria_surgical_treatment_chest_wall_deformities.pdf http://www.emedicine.com/plastic/topic458.htm

II.

http://www.pectusdeformity.com/ http://www.bartleby.com/107/illus522.html http://www.microsurgeon.org/latissimus%20vascular%20anatomy%203.jpg

Tams 13/a II. Sprengel es Klippel Feil http://www.emedicine.com http://www.emedicine.com/orthoped/topic408.htm 4. Cong.clavicula lizlet: http://www.emedicine.com/orthoped/topic385.htm 5. Cleidocranial dysostosis: http://www.ortho.hyperguides.com/ 6. Deltoid fibroticus elteresei http://www.emedicine.com/orthoped/topic481.htm