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

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• 作者：Chih-Ping Chen
• 关键词：Beckwith-Wiedemann syndrome ; fetus ; overgrowth ; Simpson-Golabi-Behmel syndrome ; Sotos syndrome
• 刊名：Taiwanese Journal of Obstetrics and Gynecology
• 出版年：2012
• 出版时间：June, 2012
• 年：2012
• 卷：51
• 期：2
• 页码：186-191
• 全文大小：170 K

文摘

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.