科斯特洛综合征：一种具有独特表型的产后生长发育迟缓综合征。

Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype.

作者信息

Fryns J P, Vogels A, Haegeman J, Eggermont E, van den Berghe H

机构信息

Centre for Human Genetics, University of Leuven, Belgium.

出版信息

Genet Couns. 1994;5(4):337-43.

PMID:7888135

Abstract

In this report we describe two non-related patients, a 12-year-old girl and 3 6/12-year-old boy, with Costello syndrome. Costello syndrome is a true MCA/MR syndrome with severe postnatal growth retardation as the first clinical sign. Characteristic facial changes, loose, hyperelastic skin and papillomata become progressively more evident with age. Patients with Costello syndrome present a pleasant, happy nature and are mildly to moderately mentally retarded.

摘要

在本报告中，我们描述了两名无关患者，一名12岁女孩和一名3岁6个月大的男孩，他们患有科斯特洛综合征。科斯特洛综合征是一种真正的巨头畸形/智力发育迟缓综合征，严重的出生后生长迟缓是其首要临床症状。典型的面部改变、松弛且弹性过度的皮肤以及乳头状瘤随着年龄增长会逐渐变得更加明显。科斯特洛综合征患者性格愉悦、快乐，存在轻度至中度智力发育迟缓。