CONGENITAL DEFORMITIES

1.

2.

Abnormalities present at birth

Etiology
Genetic influences
chromosome anomalies
multiple, severe, incompatible with life
downs syndrome/ trisomy 21
Single gene disorder
Genetic mutation
Intrauterine
Drugs, infection, irradiation
Depends on stage of fetal development

3. Combined genetic and environmental

Congenital Dislocation of the Hip/

Developmental Dysplasia of the
Hip

Dislocatable/congenital hip dysplasia

-1/100
-10% - progress to true dislocation
Dislocated
rare

Irreducible
Later in childhood

Congenital subluxation
Acetabular dysplasia
Teratologic hip dislocation
Rare,severe, pathologic changes of advanced disloc.

Incidence /etiology

1 2/ 1000
Girls 5x more affected
Ligamentous laxity, twins,
parents with dislocated hip
Northern Italy and Japan
Rare in Chinese and blacks
First born, breech del,
Unilateral > bilateral
Left > right

Pathology

Pathologic changes vary with age

Elongated ligamentum teres
Slightly increased femoral anteversion
Acetabulum becomes shallow/ roof sloping
Femoral head upward and backward, underdevelopment,
flattening
Capsule elongated, thick and fibrous, hourglass shape
Muscles (adductors)shortened and contracted
Secondary acet- developed on the ilium
Pelvis underdeveloped on the affected side; forward tilting
Postural deviation of the lumbar spine toward the affected side;
Increase of lordosis

Clinical Features
Neonatal period
IDENTIFY DISLOCATABLE HIP
BARLOWS TEST
ORTOLANIS TEST

 Infancy

Asymptomatic
Asymmetry of thigh folds
Greater trochanter is prominent
Bilateral dislocation
Each step patient lurch toward the weight bearing side
Wide perineum, broad buttocks, transverse gluteal fold is altered
Increased lumbar lordosis, protrusion of the abdomen

(+) Barlows and Ortolani sign ( early stage)

Limited abduction(< 45 degrees)
Galleazi sign
Telescoping/ piston mobility
Slight delay in walking
Abductor lurch may not be obvious
Trendelenburg test

Roentgenographic picture
3 classic signs
Delayed growth of the ossification center of the
capital epiphysis
Upward and outward displacement of the femoral
head
Obliquity of the acetabular roof

Increased acetabular index (>30 deg)

Decreased CE angle
Disrupted Shentons line
Head located at the superior lateral quadrant

 Dynamic ultrasonography
before ossification of femoral head
Acetabular dysplasia
Capsular laxity
Assessing reduction

Arthrography
Assess reduction

 Treatment
Fist 6 mos
Conservative/ non surgical
Frejka pillow, pavlik harness
Plaster cast
3 to 6 mos in cast or splint

Over 6 mos
Traction, close reduction and casting
Surgical section of adductor muscles, close reduction and
casting
Open reduction and casting
. 18 mos to 2 years
Open reduction and casting
Open reduction,osteotomy( femoral shortening or innominate
osteotomy) and casting

Treatment

 2 to 6 years old
Clinical picture

Absent stability tests

Limp
Shortening
Asymmetric thigh crease
Telescoping (absent in subluxation)
(+) trendelenburg test

Treatment
Traction, adductor tenotomy and open reduction
Varus osteotomy
Innonimate osteotomy

Congenital Talipes

Talipes
talus ankle ; pes- foot
Four Cardinal Position of the Foot
1. Varus/ inversion

2. Valgus /eversion
3. Equinus/ plantar flexion
4. Calcaneus/ dorsiflexion

Talipes Equinovarus/TEV (
congenital clubfoot)
Etiology
Asso with other disorders
Isolated(idiopathic)
20%-hereditary

Pathogenesis
Arrest or anomalous development
Failure of inward rotation of the foot
Muscle imbalance

Incidence

1/1000 birth
2x in boys
> 50% bilateral
R=L

 Pathology
Achilles tendon shortened,,anterior and posterior tendons
contracted, anomalous tendon insertion
Ligaments and capsule on the medial side shortened,
Talus- shortened and deviated medially, wedge shape,externally
rotated
Navicular bone displaced medially
Forefoot medially
Subtalar surfaces- medially, varus and equinus
Calcaneus- points downward and medially,
Tibia externally rotated
Proliferative bony changes
bursa

 Roentgenographic pictures
Little value in newborn
Evaluate treatment
Kite`s angle line drawn on
long axes of the talus and calcaneus
on AP view 20 30 deg
Lateral view in maximum dorsiflexion >35 deg
Angle of Meary 0 20 deg

 Clinical picture
Heel drawn up
Foot inverted, adducted,
concave medial border

Diagnosis
Paralysis, myelodysplasia, cerebral palsy,
old injury to distal tibial physis, osteomyelitis,fracture,
muscular dystrophy

Prognosis
Flexibility
Early treatment

 Treatment
Ponsetti technique
cavus deformity must be corrected prior to correcting the other
deformities;
- forefoot is supinated and the first metatarsal is
dorsiflexed;
to correct the varus and adduction, the foot in supination is
abducted while counterpressure is applied with
the thumb against the head of the talus;
casting involves a toe-to-groin plaster cast w/ knee flexed 90
degrees and the foot in maximum external rotation;
correction of equinus:
Tenotomy of tendon of achilles

Maintenance of reduction
Dennis brown splint

 Kites method
Serial gentle manipulation and casting until a position of
overcorrection is obtained.held in correction for 3-4 mos.,fitted
with clubfoot shoes attached to a Dennis brown splint
Reduction of talonavicular joint key to success
Rocker bottom deformity hindfoot in equinus, forefoot dorsiflexion

Postero-medial soft tissue release

6 mos to two years old
Lengthening of TA, posterior tibial tendon, FHL, FDL
Release of posterior capsule, medial structures

Dwyer Osteotomy- calcaneus

Evans resection of calcaneo-cuboid joint;surgiacl release of
talonavicular joint
Triple arthrodesis subtalar,calcaneo-cuboid,talonavicular joint
More than ten years old

Talipes Calcaneovalgus

Mild; self limited

Dorsiflexed ankle; eversion of the foot
Lenghtening of TA
Excessive pronation
treatment

No treatment
Gentle manipulation
Light corrective cast
Dennis brown splint

Metatarsus Varus
Adduction of forefoot
in the transmetatarsal joint
1/3 of clubfoot?
Metatarsus primus adductus
Sometimes asso with clubfoot, calcaneo valgus of the
opposite extremity
Residual of clubfoot deformity
Acquired (asso with valgus of hindfoot)
Cause of pigeon toe
Treatment
Manipulation; casting; surgical

Congenital Vertical Talus

Excessive plantar flexion of the talus
Calcaneus- equinus position
Talonavicular and calcaneocuboid
dislocated dorsally
Longitudinal arch is reversed
Forefoot is dorsiflexed
Simulates rocker bottom deformity
Treatment
Serial casting
Surgical
Subtalar arthrodesis -. 10 years old

Congenital Clubhand
Absence of radius

Complete / partial
Boys; bilateral(50%); right(2x)
Radial dev. of the hand; shortening of the f/a
Thumb ray, radial carpal bone(navicular),muscle controlling the
thumb, radial artery and nerve absent
Elbow often abnormal; hand is useful
Ulna- bowed
Treatment
Passive stretching,serial casting,prosthesis, surgical

Absence of ulna
Elbow instability

Congenital Abnormalities of
Fingers and Toes
Camptodactyly - Digital flexion deformity
PIP of little finger- most common
Kirners deformity- dorsal-ulnar curvature of the distal phalanx

Clinodactyly curvature in the radio-ulnar plane

Syndactyly most common
middle ring most common
Simple soft tissue; complex bony fusion

Polydactyly
Preaxial- thumb; postaxial small finger; central

Macrodactyly digital enlargement

Thumb hypoplasia - undergrowth

Macrodacyly

polydactyly

syndactyly

Arthrogryposis Multiplex Congenita

Incomplete congenital fibrous ankylosis of joints

Trunk is spared
Symmetric,mild to severe
Unknown etiology; not hereditary
Pathologic changes, mostly extra-articular
Joint capsules thickened,contracted
Muscles decreased in bulk, absent, replaced by fat
Defective formation of the anterior horn cells

 Clinical picture

Treatment
Recurrence, unsatisfactory
Improve functional status
Obtain stable well-aligned joints
Cast, extensive soft tissue release,arthrodesis

Cleidocranial Dysostosis
Partial/complete absence of clavicle
Exaggerated development
of the transverse diameter
of the cranium with delayed
ossification of the fontanels
Clinical presentation
Treatment

Congenital High Scapula

(Sprengels Deformity)

Scapula elevated 1-4 inches

Inferior angle rotated medially
Fails to descend to its normal position
Asso with other cong. Anomalies
Scapula small;; vertical length decreased ;,width- increased
May unite with lower cervical vertebra omovertebral bone
Cervical muscles is shortened
Abduction of shoulder is greatly affected,
glenohumeral motion not affected
Diagnosis
P.E, Xray
Vs paralysis of serratus anterior,obstetrical paralysis

Treatment
Postural training, exercise
Surgical intervention-before 5 yrs old

Congenital Synostosis of the

Cervical Spine (Klippel-Feil
Syndrome)
Arrest of development
Fusion of all or of only the lower cervical spine
into one homogenous mass or bone
Lamina not developed spina bifida
Classic triad
Short web neck
Low posterior hair line
Limited cervical movement

Treatment
symptomatic
Plastic surgery

CONGENITAL ANOMALIES

GENERAL AFFECTION OF
BONES

Hereditary/genetic
Hormonal/endocrine
Enzymatic
Nutritional/ metabolic
Unknown
WOLLF`S LAW
Every change in the form and function of bones or in their
function alone is followed by certain definite changes in their
internal architecture and equally definite changes in their
external formation in accordance with mathematical laws.

Bone hypertrophy bone formation > resorption

Bone atrophy (osteoporosis) resorption > formation

Achondroplasia

Most common form of short-limb dwarfism

Congenital, inherited, autosomal dominant
Enchondral osteogenesis is retarded
Membranous osteogenesis is unaffected
Pathologic process begins early in intra uterine
life slowed, disorderly development of
epiphyseal cartilage
Retardation of longitudinal growth of long bones
Changes can be recognized as early as 3 mos
of intra uterine life by x-ray

Ht <4ft, brachycephalic skull, face is small in proportion to the cranium, high and
broad forehead, flattened nose with depressed bridge, prominent lower jaw, handsis
short, fingers almost equal in length,m,ain trident, patholgic spinal curvatur,bowing of
femurs and tibia, mental and sexual chx is normal

Multiple Exostosis/ diaphyseal

aclasis

Multiple, osteocartilaginous masses

Metaphyseal, long bones
Broadening of metaphyses, shortening and bowing of of the shaft
Histologically a normal bone with a cartilaginous cap
Continues to enlarge by enchondral oss
Arise from epiphyseal plate
Excision if symptomatic
Malignant degeneration

Osteosclerosis

1.

Regions of increased bone density

Unknown cause,familial/hereditary
Excessive fluoride intake
Osteopetrosis(Albers-Schonberg dse,marble bones)

2.

Failure of osteoclastic resorption narrowed medullary canal,splayed

metaphysis
Early death in AR
Bone within bone appearance
Treatment of complications ,bone marrow transplant

Osteopathia striata

3.

Coarse longitudinal striation in cancellous bone

Bony contour is normal

Osteopoikilosis

Small and scattered area of condensation-spotted appearance in the

metaphysis
Asso with small whitish skin lesion
AD

Progressive myositis
ossificans/fibrodysplasia ossificans
progressiva

Transformation of muscles and fascia into immobile

structures of bony consistency
AD, male > female,
Begins early childhood
Under development and malalignment of great toes
Heralded by the appearance of painful, tender,
subcutaneous masses regress, fixed undergo
ossification
Neck and back are first involved
Bedridden, intercurrent infection death
Steroids, diphosphonate compounds

Osteogenesis Imperfecta
(Fragilitas ostium/brittle bones)
Hereditary,generalized connective tissue disorder
osteoporosis, with generalized thinning of the cortex,
decreased diameter of the shaft, coarse trabeculation
Unknown etiology, AD,AR
Impaired maturation of the collagen fibers( type I)
Affects - ligaments, scleras, inner ear, skin
Woven, increased bone turnover, excessive bone
formation and resorption taking place at all ages
Osteocytes abnormally plentiful, lacunae are enlarged

Types of OI
Type AD/AR sclerae
I
AD
blue

II
III

AR
AR

blue
N

IV

AD

Features
preschool age (tarda)
A teeth involved,
B not affected
lethal
fractures at birth, progressive short
stature
mild form, normal hearing
IV-A teeth involved, IV-B not invloved

Treatment
symptomatic; corrective osteotomies, medullary nailing

Marfans Syndrome(Arachnodactily)
AD
Bones- assymetry of the skull,long
fingers,scoliosis, coxa vara
Joints- hypermobile,lax
Eyes-Lens dislocation
cardiovascular (dissecting aneurysm)
Treatment
directed at individual deformity
hormonal to prevent excessive growth

Mucopolysaccharidoses
Lysosomal storage dse
Enzymatic deficiency in the lysozymes
Intracellular accumulation of excessive amounts of
mucopolysaccharides
Excretion of abnormal amounts of mucopolysaccharides
in urine
Defective bone growth, joint contractures,
hepatosplenomegaly, mental retardation, corneal
clouding, cardiovascular abnormalities

AFFECTIONS ASSOCIATED
WITH DIETARY OR METABOLIC
ABNORMALITIES

AVITAMINOSIS AND
HYPERVITAMINOSIS
VIT A

Effect on osteoblast, osteoclast,

chondroblast of growing bone
Pattern of bone growth-thick/short
bones
Hypervitaminosis elevated
periosteum-subperiosteal calcification,
pain, irritability
Ulna and metatersals most commonly
involved

 VIT C

Regulating formation of intercellular

substance
Conversion of prolene to hydroxyprolene
collagen formation
Lack of -Interfers with osteoblastic activity
Decreased formation of osteoid or bone
matrix
Defective capillary wall formation
Hemorrhage
Scurvy

Vitamin D

Rickets
(infantile/nutritional rickets)
Dietary deficiency/malabsorption defects
Subnormal calcification with relative increase of
osteoid tissue
Increase plasticity of bone that could not
withstand normal stresses
Disordered or delayed ossification
Epiphyseal cartilage cells proliferate and
hypertrophy but there is failure of mineralization
Widening and overgrowth of growth plate
Normal/ low calcium content,decrease
phosphorus, increase alkaline phosphatase

Radiographic/clinical findings
Metaphysis - Widened,curved with irregular margin
Epiphysis - Widened ,obscurely outlined, contains one or more
areas of indistinct oss., mottled appearance
Shaft thickened, fracture line, abnormal curvature
Recognized near the end of first year
Lethargy, weakness, tetany
Rachitic rosary
Harrissons groove
Craniotabes
Bowleg, knock knee,coxa vara,scoliosis
Treatment
Prevention- vit D(calciferol), phosphorus, calcium, exposure to sun
Proper posture, bracing
surgical (osteotomy)

Osteomalacia
(adult rickets)
Excess of unmeniralized bone matrix
Gastrointestinal malabsorption, anticonvulsant therapy,
excessive intake of chelating agent, decreased sunlight
exposure, dietary deficiency
Low/normal Ca, decreased P, alk phos and parathyroid
hormone elevated
Increased bone resorption- sec hyperparathyroidism
Widened osteoid seams, thinned cortices, soft bones
Heart shape pelvis, shortened/telescoped spine, bowing
of tibia and femur
Dxes iliac bone biopsy histomorphometric studiesquantification of amount of osteoid/ unmeniralized matrix
on trabecular bone

 Pain(shooting)/tenderness pelvis, back or hips

Muscular weakness, deformities,pathologic
fractures
Xray
Loosers zone/pseudofractures pathologic/fatigue

Treatment

Directed toward the underlying source

Vit D- 5000 units daily
Calcitriol - .25 -1microgram daily
Calcuim -3grams daily

Osteomalacia associated with renal

disorders

Hypophosphatemia, refractory to treatment with ordinary dosage of vit.D,

dysfunction of renal tubules
Hypophosphatemic rickets

Sex linked dominant

Defect in renal absorption of P
Serum Ca and alk phos is normal, serum P is low
Tx oral P 2-4 g, high dose vit D

Vit D dependent rickets

AR,defect in conversion of 25OH,vit D 1,25 dihydroxy form
Hypercalcemia, phosphaturia, aminoaciduria, Increase PTH

Hypophosphatasia
- AR,extremely low alkaline phosphatase,fatal in infantile form
Renal osteodystrophy
Chronic failure in adults/children, 5 yrs after the onset of renal failure
Low/N- calcium, high P and alk phos
Deposition of calcium salts in soft tissues

Scurvy

Deficient in takeof Vit C/ascorbic acid- 4- 6 mos

Changes in mesenchymal tissues of the body
Osteoporosis and depressed oteoblastic activity
Defective bone formation on the metaphyseal side of the growth plate
Scorbutic line calcified zone of provisional calcification
Separation of epiphysis at the epiphyseal-metaphyeal junction
Subperiosteal hemorrhage
Clinical appearance 6-18 mos
Irritability, poor feeding, pain/ poor wound healing, hemorrhage, petechiae
Treatment
prevention
Vit C
symptomatic

Hyperparathyroidism
(generalized osteitis fibrosa
cystica)
Excessive amounts of parathyroid hormone
Generalized osteoporosis and localized areas of
bone destruction
Increase serum calcium and alk phos;
phosphorus decrease/increase
Increase urinary calcium, hydroxyproline
Nephrolithiasis and renal insufficiency
Intestinal/psychiatric disturbances

 Pathology
Gradual resorption of bone trabeculae and a replacement of
bone and marrow by fibrous tissue
Thin lamellae,scalloped surfaces,numerous osteoclast
Hemorrhagic cyst with numerous giant cells(brown tumors)
Areas new bone formation, weakened bone, bowing/deformity,
pathologic fractures

Clinical picture
Women, middle ages,
General lassitude, muscular hypotonia

Treatment
Parathyroidectomy
Prevention of deformity
Phosphates/alendronates

Infantile Cortical Hyperostosis

(Caffeys Dse)

Self limited
Painful swelling and subperiosteal new bone formation
Shaft of long bones and mandible
Less than 6 mos old
Boys>girls
Irritability and swelling; tender wooden induration
Ruleout battered child,osteomyelitis, hyprvitaminosis A
No treatment,surgery contraindicated,steroids in severe
form

Histiocytosis
(Reticuloendotheliosis)

Eosinophilic granuloma
Benign, solitary, children, young adult, males
Circumscribed area of bone destruction, 1 4 cm, sharply punched out
appearance
Vertebral plana
Hemorrhagic granulation tissue, (mic)- large mononuclears, collection of
eosinophils, multinuclear giants cells
Disappear, excision, curettage, bone grafting

Hand-Schullers-Christian dse

Multiple bone defects

Skull, skin, tendons, viscera
Diabetis insipidus, exophthalmos, gingivitis
Pituitary gland involvement; jaundiced
Fatal; prednisone, chemotherapy, radiotherapy

Letterer-Siwe dse
Rapid, progressive,fatal
Liver, spleen, lymph nodes
Anemia, leukopenia ,anemia

Enchondromatosis
(Olliers dse, Dyschondroplasia)
Disorderly and excessive proliferation of the cartilage cells in
different epiphyseal plates; young to mature chondrocytes
Within the metaphysis
Vs. exostosis
Maybe present at birth but not apparent
Failure of resorption during the process of enchondral oss.
Myxomatous degeneration;calcification
Predominantly on one side of the body- unequal leg length,bowing,
angular deformities
Enlargement of digits and loss of function
Xray elongated radiolucent areas from epiphyseal line to the
metaphysis; directed along the long axis of the bone
No specific treatment; osteotomy, limb lengthening
Malignant degeneration Mafucci syndrome( enchondromatosis
plus hemangiomas)

Fibrous Dysplasia
Chronic, one or many skeletal lesion; unknown cause
Bone is replaced by abnormal proliferation of fibro-osseous tissues
polyostotic

Girls, later years of growth period, predominantly unilateral, long bones

Albrights syndrome with caf au lait spots, endocrine disorder
Cancellous bone
Gray lesions, soft and gritty; (mic) fibroblastic matrix embedded in
scattered spicules of immature bone, (+)osteoid
Xray- radioluscent areas of ground glass appearance,thinned cortices,
deformed contours ( Shepherd crook), pathologic fractures
Curettag,bone grafting and fixation

Monostotic
Osteofibrous dysplasia/ossifying fibroma- tibial diaphysis

Osteitis Deformans
(pagets dse)

Chronic skeletal dse of middle and late life

Begins insidiously, progressive structural changes and typical deformities
Mostly asymptomatic
Accelerated resorption and excesssive abnormal regeneration
During active phase- blood flow to the bone- high output cardiac failure
Gradual thickening and bowing of the shaft of the long bones
Severe intractable pain, fatigue, stiffness and clumsiness
Deformity and enlargement of the bone
Kyphosis, barrel chest,
Deafness ,tinnitus, impairment of vision
Xray increase in curvature, cortex thickened to 5x, blurred, fluffy appearance, medulla
narrowed,greatly increased cranial bones
Increase alkaline phos,urine hydoxyproline,hypercalcemia
Diffvs hyperparathyroidism ,metastatic Ca, osteomalacia, syphilis
Treatment

Serial obsrvation
Calcitonin, piphosphonates,mothramycin
Surgical
Good prognosis
Development of malignancy - osteogeniccarcinoma

Senile Osteoporosis

Acquisition of bone mass up to 40 yrs old

Accentuation of physiologic loss of bone mass
Senile/postmenopausal osteoporosis
Women, small stature, white
Smokers ,heavy drinkers
Sedentary
Commonest metabolic affectation of bone
Cancellous bone is greatly affected
Quantitative not a qualitative defect

 Develops when bone that is being lost by normal

catabolism is not replaced in equal measure by
new bone formation
Decrease osteoblastic activity
Mild prolonged negative calcium balance
Decrease absorption, inadequate intake

Changes in gonads and adrenal gland

Inactivity in old age
Deficiency in estrogen defective protein
metabolism

Mechanism of Bone Mass

Regulation

Types
Type I (postmenopausal) affects trabecular bone, vertebral and distal radius
fracture
Type II (age related) more than 75 yrs old, both trabecular and cortical bone,
hipand pelvic fracture

Clinical picture
Fractures
Pain, kyphosis,deformity

Diagnosis

Normal serum Ca, P, alkaline phosphatase

Xray- more than 30% bone loss
Single photon (appendicular) absorptiometry
Dual photon (axial) absorptiometry
Quantitative CT scan
Dual energy xray absorptiometry (DEXA)

Histologic- thinning of trabecuale, decrease size of osteons, enlargement of

haversian canal and marrow spaces

Treatment

Posttraumatic painful osteoporosis

(sudecks atrophy,reflex sympthetic
dystrophy)
Prolonged local pain, swelling,vasomotor instability, trophic
changes, diffuse patchy rarefaction and atrophy of the bone after an
injury of an extremity or peripheral nerve
Trauma is minor;disturbance is greater than the expected from the
injury
Hands and foot
Atrophy develops very rapidly
Disturbed function of the sympathetic nerve supply
Vs atrophy of disuse and causalgia
Heals spontaneously,
Brief splinting; prolonged physical therapy; active exercise
Sympatholytic drugs, sympathetic block, ganglionectomy,
sympathectomy