Short stature, ulnar deviation of hands with absent carpals and joint contractures: a new syndrome.
We report on a case of short stature with facial dysmorphism, ulnar deviation of hands and joint contractures. The X-rays of hands showed dislocation of the distal end of the radius and growth of the radius over the head of the ulna with total absence of carpal bones and hypoplastic tarsal bones. This is first report of such an association.
Phadke
Shubha R
SR
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Dalal
Ashwin
A
D001848:Bone Diseases, Developmental / Q000473:pathology*; D002648:Child; D004392:Dwarfism / Q000473:pathology*; D005532:Foot Deformities, Congenital / Q000473:pathology*; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006801:Humans; D008297:Male; D013577:Syndrome; D013639:Tarsal Bones / Q000002:abnormalities*; D014457:Ulna; D014955:Wrist Joint / Q000002:abnormalities*