An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.
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.
Green
A J
AJ
Department of Clinical Genetics, Addenbrooke's NHS Trust, Cambridge, UK.
Sandford
R N
RN
Davison
B C
BC
D001003:Anal Canal / Q000002:abnormalities*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D000013:Congenital Abnormalities / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005835:Genitalia / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D010375:Pedigree; D010388:Pelvis / Q000002:abnormalities; D013576:Syndactyly / Q000235:genetics*