患有常染色体隐性脊柱肋骨发育不良的同卵双胞胎。

Identical twins with an autosomal recessive form of spondylocostal dysostosis.

作者信息

Satar M, Kozanoglu M N, Atilla E

机构信息

Department of Pediatrics, Cukurova University, Adana, Turkey.

出版信息

Clin Genet. 1992 Jun;41(6):290-2. doi: 10.1111/j.1399-0004.1992.tb03399.x.

DOI:10.1111/j.1399-0004.1992.tb03399.x

PMID:1623623

Abstract

A form of spondylocostal dysostosis, marked by multiple vertebral clefts, costal bifurcation, and fusion was observed in identical male twins whose parents were first cousins. The lack of previous anomalies in the family, the high degree of parental inbreeding and the absence of deformities in a 3-year-old brother indicated an autosomal recessive mode of inheritance.

摘要

在父母为近亲的同卵双胞胎男性中观察到一种脊椎肋骨发育不良的形式，其特征为多个椎体裂、肋骨分叉和融合。家族中既往无异常情况、父母近亲结婚程度高以及一名3岁弟弟无畸形表明为常染色体隐性遗传模式。