眼距过窄、黏膜下腭裂和尿道下裂：一种新的常染色体显性综合征。

Ocular hypotelorism, submucosal cleft palate, and hypospadias: a new autosomal dominant syndrome.

作者信息

Schilbach U, Rott H D

机构信息

Institut für Humangenetik, Friedrich-Alexander-Universität, Erlangen-Nümberg, Federal Republic of Germany.

出版信息

Am J Med Genet. 1988 Dec;31(4):863-70. doi: 10.1002/ajmg.1320310420.

DOI:10.1002/ajmg.1320310420

PMID:3149147

Abstract

A syndrome characterized by ocular hypotelorism, submucosal cleft palate, and hypospadias in males was found in ten relatives over five generations of a family. Other anomalies are blepharophimosis, upslant of palpebral fissures, and a tendency to cutaneous syndactyly of 3rd and 4th fingers as well as 2nd and 3rd toes. Autosomal dominant inheritance is likely.

摘要

在一个家族的五代中，十位亲属被发现患有一种以眼距过窄、黏膜下腭裂和男性尿道下裂为特征的综合征。其他异常包括睑裂狭小、睑裂向上倾斜，以及第三和第四指以及第二和第三趾皮肤并指倾向。可能为常染色体显性遗传。