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
收藏
页码：505 / 515
页数：11
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