Syndromes with overgrowth as the cardinal symptom

被引：0

作者：

Kuechler, A. ^{[1
]}

Wieczorek, D. ^{[1
]}

机构：

[1] Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany

来源：

MEDIZINISCHE GENETIK | 2011年 / 23卷 / 04期

关键词：

Overgrowth; Syndromes; Tumor risk; Prevention programs; SOTOS; BIRTH;

D O I：

10.1007/s11825-011-0307-7

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Syndromic conditions with overgrowth as the cardinal clinical sign are a relevant problem in human genetics and pediatrics. Overgrowth is defined as a length/height of more than two standard deviations above the mean, i.e. a body length above the 97th centile. Overgrowth syndromes relevant in the clinical daily routine of the geneticist or pediatrician are described here: Marfan, Beck-with-Wiedemann, Sotos, Weaver, Simpson-Golabi-Behmel and Proteus syndromes. The characteristic clinical signs, diagnostic criteria, molecular bases, modes of inheritance, prevention programs-where necessary-as well as differential diagnoses are presented here.

引用

页码：505 / 515

页数：11

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