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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