Autosomal dominant antecubital pterygium: syndromic status substantiated.
An autosomal dominant (AD) antecubital pterygium syndrome has been documented on the Indian Ocean Island of Rodrigues, and 11 affected family members in five generations have been studied over four decades. The consistent features include a fleshy web extending across the anterior aspect of the cubital fossa, absence of the long head of the triceps, limitation of full elbow extension and missing skin creases over the terminal inter-phalangeal joints of the fingers. On the basis of our observations, we consider that this condition warrants acceptance as an autonomous AD entity.
Wallis
C E
CE
Department of Human Genetics, University of Cape Town, Medical School, South Africa.
Shun-Shin
M
M
Beighton
P H
PH
D001132:Arm / Q000002:abnormalities*; D004551:Elbow Joint; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007195:Indian Ocean Islands; D008297:Male; D009132:Muscles / Q000002:abnormalities*; D010375:Pedigree; D013577:Syndrome