HYPOPLASIA OF FEMUR

Fary Tri Sabdillah

Introduction

 All the skeletal dysplasias affect growth, although this

may not be obvious at birth
 Children should be measured at regular intervals and a
record kept of
 height,
 length of lower segment (top of pubic symphysis to heel),
 upper segment (pubis to cranium),
 span, head circumference and chest circumference
 Failure to reach the expected height for the local
population group should be noted, and marked
shortness of stature is highly suspicious.
 Bodily proportion is as important as overall height. The
normal upper segment:lower segment ratio hanges gradually
from about 1.5:1 at the end of the first year to about 1:1 at
puberty.
 By contrast, small stature with disproportionate shortness of
the limbs is characteristic of skeletal dysplasia, the long
bones being more markedly affected than the axial skeleton.
 The different segments of the limbs also may be
disproportionately affected. The subtleties of dysplastic growth
are reflected in terms such as;
 rhizomelia – unusually short proximal segments (humeri and femora),
 mesomelia – short middle segments (forearms and legs) and
 acromelia – stubby hands and feet.
 Dysmorphism (a misshapen part of the body) is most obvious in
the face and hands. There is a remarkable consistency about
these changes, which makes for a disturbing similarity of
appearance in members of a particular group.
 Local deformities – such as kyphosis, valgus or varus knees,
bowed forearms and ulnar deviated wrists result from disturbed
bone growth
 Femoral deficiency (congenital
short femur)
 Most benign  femoral dysplasia consists merely of shortening of the
bone with a normal hip and knee.
 dealt with  limb lengthening procedures or,
 if shortening is very marked, by adding a distal orthosis
 If this is associated with coxa vara, a proximal osteotomy may be needed.
 Dysplasia of the distal third – sometimes with synostosis of the knee 
uncommon
 Since hip permits normal weightbearing, this condition also can be
managed by limb lengthening operations
 Proximal femoral dysplasia  more common
 and usually much more serious because it presents a twofold problem:
shortening of the limb and defective weightbearing at the hip.
 The most widely used classification of proximal femoral dysplasia  Aitklin
 Coxa vara with moderate shortening of the shaft  dealt by
corrective osteotomy and limb lengthening
 Severe degrees of coxa vara  sometimes + pseudoarthrosis of
the femoral neck,
 may result in marked shortening of the femur
 In the worst cases most of the femoral shaft is missing, the
knee is situated at thigh level and the foot hangs where the
knee is normally expected to be.
 If the deformity is bilateral and symmetrical  walking is
possible and some individuals acquire remarkable agility;
 however, still seek treatment  cosmetic problem.
 DIAGNOSIS IN CHILDHOOD

Clinical features
 Tell-tale features suggesting skeletal dysplasia are:
 retarded growth and shortness of stature
 disproportionate length of trunk and limbs
 localized malformations (dysmorphism)
 soft-tissue contractures
 childhood deformity
X-rays
 The presence of any of the above features calls for a
limited radiographic survey: Chest PA, Pelvis AP, knees
and hands, additional views of one arm and one leg,
Thoracolumbar lateral and standard views of the skull.
 Fractures, bent bones, exostoses, epiphyseal dysplasia
and spinal deformities may be obvious, especially in the
older child.
 Sometimes a complete survey is needed and it is
important to note which portion of the long bones
(epiphysis, metaphysis or diaphysis) is affected.
 With severe and varied changes in the metaphyses,
periosteal new bone formation or epiphyseal
separation, always consider the possibility of non-
accidental injuries – the ‘battered baby’ syndrome.
Special investigations
 In many cases the diagnosis can be made w/o laboratory
tests;
 however, routine blood and urine analysis  exclude
metabolic & endocrine disorders (rickets, pituitary,
thyroid dysfunction)
 Special tests are also available to identify specific excretory
metabolites in the storage disorders, and specific enzyme
activity can be measured in serum, blood cells or cultured
fibroblasts.
 Bone biopsy  disorders of bone density
 Direct testing for gene mutations is already available for a
number of conditions and is rapidly being extended to others.
 Useful adjunct to clinical diagnosis.
 Controversial is its application to pre-clinical diagnosis of late-
onset disorders and neonatal screening for potentially dangerous
conditions such as sickle-cell disease
Previous medical history

 Always ask whether the mother was exposed to

teratogenic agents (x-rays, cytotoxic drugs or virus
infections) during the early months of pregnancy
The family history
 A careful family history should always be obtained. This
should include information about;
 similar disorders in parents and close relatives,
 previous deaths in the family (and the cause of death),
 abortions and;
 consanguineous marriages.
 However, the fact that parents or relatives are said to
be ‘normal’ does not exclude the possibility that they
are either very mildly affected or have a biochemical
defect without any physical abnormality.
 Many developmental disorders have characteristic
patterns of inheritance which may be helpful in
diagnosis
 Racial background is sometimes important: some
diseases are particularly common in certain
communities, for example, sickle-cell disease in Negroid
peoples and Gaucher’s disease in Ashkenazi Jews.
DIAGNOSIS IN ADULTHOOD
 It is unusual for a patient to present in adulthood with a
condition that has been present since birth but in
milder cases the abnormality may not have been
recognized, particularly when several members of the
family are similarly affected.
 In the worst of the genetic disorders the fetus is still-
born or survives for only a short time.
 Individuals who reach adulthood, though recognizably
abnormal, may lead active lives, marry and have
children of their own. Nevertheless, they often seek
medical advice for several reasons:
 short stature – especially disproportionate shortness of the
lower limbs
 local bone deformities or exostoses
 spinal stenosis
 repeated fractures
 secondary osteoarthritis (e.g. due to epiphyseal dysplasia)
 joint laxity or instability.
 The clinical approach is similar to that employed with
children.
 Unilateral deformities are not only unsightly but also
very disabling.
 Effective limb lengthening is out of the question, and
fitting a prosthesis to a short limb with flexion
deformities of the ‘hip’ and knee and a foot jutting
forwards where the knee-hinge of the prosthesis will lie
is a daunting prospect.
 PRINCIPLES OF MANAGEMENT

 Management of the individual patient depends on the

diagnosis, the pattern of inheritance, the type and severity
of deformity or disability, mental capacity and social
aspirations. However, it is worth noting some general
principles
Communication
 Explain as much as possible to the patient/the parents
w/o causing unnecessary distress.
 Rare developmental disorders are best treated in a
centre that offers a ‘special interest’ team :
 paediatrician,
 medical geneticist,
 orthopaedic surgeon,
 psychologist,
 social worker,
 occupational therapist,
 orthotist and prosthetist
Counselling
 Patients and families may need expert counselling
about:
 (1) the likely outcome of the disorders;
 (2) what will be required of the family; and
 (3) the risk of siblings or children being affected. Where
there are severe deformities or mental disability, the
entire family may need counselling
Maintaining an independent lifestyle
 Parents are often anxious about having their child grow up
as ‘normal’ as possible, yet ‘normality’ may mean
something different for the child
 For example, it is expected that children will become
independently mobile only by learning to walk in a safe and
effective manner, but some children with genetic disorders
may be equally independently mobile with the use of a
wheelchair.
 Management must be influenced by goals for adult life and
not just the short-term goals of childhood
Intrauterine surgery
 The concept of operating on the unborn fetus is
already a reality and is likely to be extended in the
future.
 At present, however, it is still too early to say
whether the advantages (e.g. prenatal skin closure for
dysraphism) will outweigh the risks
 Prevention and correction of deformities
 In recent years, with advances in methods of limb lengthening,
many short-limbed patients have benefited from this operation;
however, the risks should be carefully explained and the
expected benefits should not be exaggerated.
 In the past there was some enthusiasm for the Van Nes
operation: fusion of the knee and 180 degree rotational
osteotomy of the leg bones to get the foot facing back-to-front
and the ankle substituting for the knee, followed by fitting an
‘above-knee’ prosthesis.
 However, the trick is easier, and looks better, in drawings than
in real life and the procedure is seldom done nowadays.
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