科芬-西里斯综合征

The Coffin-Siris syndrome.

作者信息

Qazi Q H, Heckman L S, Markouizos D, Verma R S

机构信息

State University of New York Health Science Center at Brooklyn.

出版信息

J Med Genet. 1990 May;27(5):333-6. doi: 10.1136/jmg.27.5.333.

DOI:10.1136/jmg.27.5.333

PMID:2352263

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1017087/

Abstract

We report a white female infant with typical features of Coffin-Siris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of the fifth fingers and of the second to fifth toes, small patellae, inguinal hernia, and sucking and feeding difficulties. There was decreased fetal activity and intrauterine growth retardation.

摘要

我们报告了一名患有科芬-西里斯综合征典型特征的白人女婴，这些特征包括浓眉、鼻梁扁平、鼻尖前倾且宽大、全身性多毛症、头皮毛发稀少、第五指（趾）甲缺如、第五指远节指骨以及第二至第五趾远节趾骨缺如、小髌骨、腹股沟疝，以及吸吮和喂养困难。还存在胎动减少和宫内生长迟缓的情况。