Radial ray defects and associated anomalies.
In a series of 34 patients with defects of the radial ray, 24 individuals had additional clinical manifestations. A firm syndromic diagnosis could be reached in 17 persons (TAR syndrome 4, Holt-Oram syndrome 8, Fanconi anaemia 2, VATER association 2, Radial ray-choanal atresia 1). In the remainder, no specific diagnosis could be established. The heterogeneity of radial ray syndromes has important implications for prognostication and genetic counselling.
Cox
H
H
Department of Human Genetics and Medicine, University of Cape Town Medical School, South Africa.
Viljoen
D
D
Versfeld
G
G
Beighton
P
P
D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D005817:Genetic Counseling; D006228:Hand Deformities, Congenital; D006801:Humans; D007866:Leg / Q000002:abnormalities; D008297:Male; D011884:Radius / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities; D013577:Syndrome / Q000209:etiology