致死性多发性翼状胬肉综合征病例，特别提及翼状胬肉的起源

Case of lethal multiple pterygium syndrome with special reference to the origin of pterygia.

作者信息

Hartwig N G, Vermeij-Keers C, Bruijn J A, van Groningen K, Ottervanger H P, Holm J P

机构信息

Department of Anatomy and Embryology, University of Leiden, The Netherlands.

出版信息

Am J Med Genet. 1989 Aug;33(4):537-41. doi: 10.1002/ajmg.1320330425.

DOI:10.1002/ajmg.1320330425

PMID:2531978

Abstract

A case of lethal multiple pterygium syndrome is presented. Besides the anomalies usually associated with this syndrome, cardiac hypertrophy and connective tissue abnormalities were observed. On the basis of these observations, we suggest that an abnormally fragile collagen constitution is the principal disorder in the lethal multiple pterygium syndrome, which is responsible for the pathogenesis of fetal immobility, pterygia, and many of the associated anomalies.

摘要

本文报告一例致死性多发性翼状胬肉综合征病例。除了该综合征通常伴有的异常表现外，还观察到心脏肥大和结缔组织异常。基于这些观察结果，我们认为，致死性多发性翼状胬肉综合征的主要病变是胶原结构异常脆弱，这导致了胎儿运动受限、翼状胬肉以及许多相关异常的发病机制。