Nance-Sweeney chondrodysplasia--a further case?
A 52-year-old male with short stature due to short limbs, a cleft palate and subcutaneous calcification was described by Nance and Sweeney in 1970. His parents were consanguineous and two female sibs and two cousins were said to be similarly affected, thus the authors proposed that this was a previously undescribed recessively inherited chondrodystrophy. We describe a patient with short stature due to short limbs, subcutaneous calcification, and a cleft palate with features similar to those described by Nance and Sweeney.
Rosser
E M
EM
Department of Clinical Genetics, Churchill Hospital, Oxford, UK.
Hall
C M
CM
Harper
J
J
Lacour
M
M
Baraitser
M
M
D001132:Arm / Q000002:abnormalities; D001827:Body Height; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002114:Calcinosis; D002972:Cleft Palate; D003241:Consanguinity; D005260:Female; D006801:Humans; D007866:Leg / Q000002:abnormalities; D008297:Male; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000145:classification* / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D012871:Skin Diseases