伴有或不伴有多指（趾）畸形的家族性塞-乔综合征

Familial Saethre-Chotzen syndrome with or without polydactyly of the toe.

作者信息

Shidayama R, Hirano A, Iio Y, Fujii T

机构信息

Department of Plastic and Reconstructive Surgery, Nagasaki University School of Medicine, Japan.

出版信息

Ann Plast Surg. 1995 Apr;34(4):435-40. doi: 10.1097/00000637-199504000-00018.

DOI:10.1097/00000637-199504000-00018

PMID:7793794

Abstract

A family with Saethre-Chotzen syndrome with or without polydactyly of the great toes is presented. Saethre-Chotzen syndrome with polydactyly of the great toes has been reported as Robinow-Sorauf syndrome. Both syndromes were observed in this family. This suggests that Saethre-Chotzen syndrome and Robinow-Sorauf syndrome fall within the same clinical spectrum, and the cause is a pleiotropic effect, which is variously expressed.

摘要

本文报告了一个患有塞特勒-乔岑综合征（Saethre-Chotzen syndrome）的家族，该家族成员存在或不存在拇趾多指畸形。伴有拇趾多指畸形的塞特勒-乔岑综合征曾被报道为罗宾诺-索劳夫综合征（Robinow-Sorauf syndrome）。在这个家族中观察到了这两种综合征。这表明塞特勒-乔岑综合征和罗宾诺-索劳夫综合征属于同一临床谱系，其病因是一种多效性效应，有多种不同的表现形式。