Costello syndrome: clinical features and tumoral risk

被引：3

作者：

Delrue, MA ^{[1
]}

Arveiler, B ^{[1
]}

Lacombe, D ^{[1
]}

机构：

[1] CHU Pellegrin Enfants, Serv Genet Med, F-33076 Bordeaux, France

来源：

ARCHIVES DE PEDIATRIE | 2002年 / 9卷 / 10期

关键词：

Costello syndrome;

D O I：

10.1016/S0929-693X(02)00058-1

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Costello syndrome is a sporadic development anomaly suggesting a genetic determinism. Main features include charateristic facial features, mental retardation, growth retardation, cutis laxa, heart malformation, and peri-orificial papillomata. In previous reported cases, the frequency of tumors is 15%, which argues for a screening protocol. The occurence of a tumor in a child with growth retardation and cutis laxa must be reminiscent of Costello syndrome. The determinism of this syndrome is still unknown, and the hypothesis of an inactivation of a tumor suppressor gene is to be considered. (C) 2002 Editions scientifiques et medicales Elsevier SAS. All rights reserved.

引用

页码：1059 / 1063

页数：5

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