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胎儿过度生长障碍的产前发现和遗传诊断:辛普森-戈尔比-贝姆综合征、Sotos 综合征和贝克威思-威德曼综合征。

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

机构信息

Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.

出版信息

Taiwan J Obstet Gynecol. 2012 Jun;51(2):186-91. doi: 10.1016/j.tjog.2012.04.004.

Abstract

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.

摘要

随着产前超声技术的出现,胎儿过度生长很容易被发现。产前发生的过度生长可能继发于家族性高身材、家族性快速成熟、糖尿病巨大儿和先天性胰岛细胞瘤等正常变异,也可能是由于病理性过度生长障碍而原发性发生。本文全面回顾了一些病理性产前过度生长障碍的产前发现和遗传诊断,如辛普森-戈尔伯齐-比姆综合征、Sotos 综合征和贝克威思-威德曼综合征。

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