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).

Ulnar deviation of the hand

Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).


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PMID (PMCID)
9602486
 FEMALE Adult
Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity.
Jung C, Sohn C, Sergi C.
Prenat Diagn. 1998;18(4):378-83.
Ulnar deviation of the hands and talipes made diastrophic dysplasia the most likely differential diagnosis.