18三体综合征伴足裂

Trisomy 18 syndrome with cleft foot.

作者信息

Castle D, Bernstein R

机构信息

Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg.

出版信息

J Med Genet. 1988 Aug;25(8):568-70. doi: 10.1136/jmg.25.8.568.

DOI:10.1136/jmg.25.8.568

PMID:3172152

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1080037/

Abstract

Ectrodactyly of the feet has been reported only twice in association with trisomy 18 syndrome. A severe form of this anomaly, the first with published illustrative x rays, is described in a male infant with trisomy 18 syndrome. It is suggested that this may represent an extreme expression of the foot anomalies more commonly associated with this syndrome.

摘要

足部缺指（趾）畸形仅在与18三体综合征相关的病例中被报道过两次。本文描述了一名患有18三体综合征的男婴，其足部存在严重的这种畸形，首次发表了有说明性的X光片。有人认为，这可能代表了与该综合征更常见相关的足部异常的一种极端表现。