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).

Abnormality of the hand

An abnormality affecting one or both hands.


Total: 1

                       


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PMID (PMCID)
8723083
 MIXED_SAMPLE Infant, Newborn
Diastrophic dysplasia: extreme variability within a sibship.
Hall BD.
Am J Med Genet. 1996;63(1):28-33.
The firstborn, a male, lacked many of the clinical manifestations and radiological abnormalities of the hands, such that the diagnosis of diastrophic dysplasia could not be made.