具有马方样表型的兄弟姐妹中的异常并发症。

Unusual complications in siblings with marfanoid phenotype.

作者信息

de Silva D G, Gunawardena T P, Law F M

机构信息

Department of Paediatrics, University of Ruhuna, Karapitiya, Galle, Sri Lanka.

出版信息

Arch Dis Child. 1996 Sep;75(3):247-8. doi: 10.1136/adc.75.3.247.

DOI:10.1136/adc.75.3.247

PMID:8976669

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1511712/

Abstract

Marfan's syndrome has diverse manifestations that overlap with those seen in other connective tissue disorders. Visceral diverticula have been described only once in four adults with marfanoid features of recessive inheritance. Two siblings of a consanguineous marriage with marfanoid features, visceral diverticula, and diaphragmatic eventration are reported.

摘要

马凡综合征有多种表现，与其他结缔组织疾病的表现有重叠。在内脏憩室方面，仅在4名具有隐性遗传马凡样特征的成年人中被描述过一次。本文报告了一对近亲结婚的兄弟姐妹，他们具有马凡样特征、内脏憩室和膈膨升。