An autosomal dominant syndrome of renal and anogenital malformations with syndactyly. Issue 7 (July 1996)

• Record Type: Journal Article
• Authors: Green, A J; Sandford, R N; Davison, B C
• Is Part Of: Journal of medical genetics. Volume 33:Issue 7(1996)
• Page Start: 594
• Page End: 596
• Publication Date: 1996-07
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.33.7.594
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : We describe a family with autosomal dominant inheritance of anal anomalies, renal tract abnormalities, genital malformations, and syndactyly. These clinical manifestations do not clearly fall into any previously described syndrome. A mother and daughter had almost identical congenital malformations, short stature, and unusual facies. The proband was born with anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, and syndactyly of both feet. Her daughter had the same anal, clitoral, and foot anomalies, a solitary pelvic kidney, and no fistula. This family is likely to represent autosomal dominant inheritance of a new combination of malformations, which may overlap with the Townes-Brocks syndrome, but does not fall into a current diagnostic category.