Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome

被引：22

作者：

Chen, Chih-Ping ^{[1
,2
,3
,4
,5
,6
,7
]}

机构：

[1] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan

[2] Mackay Med Coll, Dept Med, New Taipei City, Taiwan

[3] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan

[4] Asia Univ, Dept Biotechnol, Taichung, Taiwan

[5] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan

[6] Natl Yang Ming Univ, Inst Clin & Community Hlth Nursing, Taipei 112, Taiwan

[7] Natl Yang Ming Univ, Sch Med, Dept Obstet & Gynecol, Taipei 112, Taiwan

来源：

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY | 2012年 / 51卷 / 02期

关键词：

Beckwith-Wiedemann syndrome; fetus; overgrowth; Simpson-Golabi-Behmel syndrome; Sotos syndrome; INCREASED NUCHAL TRANSLUCENCY; NSD1; MUTATIONS; GLYPICAN GENE; FOLLOW-UP; GPC3; IDENTIFICATION; PHENOTYPE; MICRODELETIONS; CHROMOSOME; GIGANTISM;

D O I：

10.1016/j.tjog.2012.04.004

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

With the advent of prenatal sonography, fetal overgrowth can be easily detected. Prenatal-onset overgrowth can be secondary to normal variants of familial tall stature, familial rapid maturation, diabetic macrosomia, and congenital nesidioblastosis, or prenatal-onset overgrowth can be primary due to pathological overgrowth disorders. This article provides a comprehensive review of the prenatal findings and the genetic diagnosis of some of the pathological prenatal-onset overgrowth disorders, such as Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. Copyright (c) 2012, Taiwan Association of Obstetrics & Gynecology. Published by Elsevier Taiwan LLC. All rights reserved.

引用

页码：186 / 191

页数：6

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