Green A J, Sandford R N, Davison B C
Department of Clinical Genetics, Addenbrooke's NHS Trust, Cambridge, UK.
J Med Genet. 1996 Jul;33(7):594-6. doi: 10.1136/jmg.33.7.594.
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.
我们描述了一个具有肛门异常、泌尿道异常、生殖器畸形和并指（趾）畸形常染色体显性遗传的家系。这些临床表现并不明确属于任何先前描述的综合征。一位母亲和女儿有几乎相同的先天性畸形、身材矮小和特殊面容。先证者出生时患有肛门狭窄、直肠阴道瘘、阴蒂肥大、盆腔右肾和双脚并指（趾）畸形。她的女儿有相同的肛门、阴蒂和足部异常，一个孤立的盆腔肾，且没有瘘管。这个家系可能代表一种新的畸形组合的常染色体显性遗传，它可能与汤姆斯-布罗克斯综合征重叠，但不属于当前的诊断类别。
