Presentation
Dwarfism.
Patient Data
Significant bilateral iliac wings flaring, bilateral coxa valga, and metaphyseal flaring of femur, tibia, and fibula.
Wide metacarpals with proximal pointing, along with irregular carpal bones.
Flattened vertebral bodies with central anterior beaking.
Skeletal dysplasia should be considered (mucopolysaccharidosis on top of the differential diagnosis, especially Morquio syndrome).
Case Discussion
Mucopolysaccharidosis is a heterogeneous group of inheritable lysosomal storage diseases in which the accumulation of undegraded glycosaminoglycans leads to progressive damage of affected tissues.
Mucopolysaccharidosis includes many types, of which Hurler and Morquio syndrome are the most well-known radiographically.
Diagnosis is established by both radiological and biochemical studies.
Unfortunately, biochemical studies are not available in this case.
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