Unique skeletal dysplasia with absence of the distal ulnae.
We report on an Indian woman with a severe shortness of stature, absence of the distal ulnae, and a predominantly spondylometaphyseal skeletal dysplasia. The clinicoradiographic changes in this patient appear to represent a unique skeletal disorder.
Department of Human Genetics, University of Cape Town Medical School, South Africa.
J
J
Goldblatt
D
D
Behari
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000328:Adult; D001848:Bone Diseases, Developmental / Q000151:congenital* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D011859:Radiography; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging; D014457:Ulna / Q000002:abnormalities* / Q000000981:diagnostic imaging