Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission.
We report on a family in which a mother and her 2 offspring presented with bilateral radial defects and absent thumbs. In addition, Duane anomaly was present in both offspring, one of whom also had anal stenosis. Clinical investigation showed no skeletal, cardiac, or urogenital abnormalities. Autosomal dominant transmission of radial defects is suggested, with Duane anomaly and anal stenosis representing manifestations of the same gene.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities*; D005133:Eye Movements; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D011884:Radius / Q000002:abnormalities*; D013933:Thumb / Q000002:abnormalities*