Diastrophic dwarfism

A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

Kyphosis

Exaggerated anterior convexity of the thoracic vertebral column.


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PMID (PMCID)
11103546
 FEMALE Infant
Diastrophic dysplasia with severe primary kyphosis and 'monkey wrench' appearance of the femora.
Bieganski T, Faflik J, Kozlowski K.
Australas Radiol. 2000;44(4):450-3.
The cases of two sisters with severe diastrophic dysplasia who showed some unusual radiographic features (kyphosis secondary to hypoplasia/dysplasia of the lumbar spine and a 'monkey wrench' appearance of the proximal femur) are reported here.