科斯特洛综合征的描述。

Delineation of the Costello syndrome.

作者信息

Martin R A, Jones K L

机构信息

Department of Pediatrics, University of California, San Diego 92103.

出版信息

Am J Med Genet. 1991 Dec 1;41(3):346-9. doi: 10.1002/ajmg.1320410316.

DOI:10.1002/ajmg.1320410316

PMID:1789291

Abstract

We present a 15-year-old girl with mental retardation, short stature, coarse face, unusually thick, loose skin of the hands and feet, deep plantar and palmar creases, and nasal papillomata. Her history and physical findings are compared to those of 2 children initially reported by Costello and to 1 child recently reported by Der Kaloustian et al.

摘要

我们报告一名15岁女孩，她有智力发育迟缓、身材矮小、面容粗糙、手脚皮肤异常增厚且松弛、足底和手掌纹路深，以及鼻乳头状瘤。将她的病史和体格检查结果与最初由科斯特洛报告的2名儿童以及最近由德尔·卡洛斯蒂安等人报告的1名儿童的情况进行了比较。