Literature DB >> 22795092

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

Chih-Ping Chen1.   

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.
Copyright © 2012. Published by Elsevier B.V.

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Mesh:

Year:  2012        PMID: 22795092     DOI: 10.1016/j.tjog.2012.04.004

Source DB:  PubMed          Journal:  Taiwan J Obstet Gynecol        ISSN: 1028-4559            Impact factor:   1.705


  3 in total

1.  Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation.

Authors:  Leire Gondra; Stéphane Décramer; Gihad E Chalouhi; Françoise Muller; Rémi Salomon; Laurence Heidet
Journal:  Pediatr Nephrol       Date:  2016-06-10       Impact factor: 3.714

Review 2.  Simpson-Golabi-Behmel syndrome types I and II.

Authors:  Jair Tenorio; Pedro Arias; Víctor Martínez-Glez; Fernando Santos; Sixto García-Miñaur; Julián Nevado; Pablo Lapunzina
Journal:  Orphanet J Rare Dis       Date:  2014-09-20       Impact factor: 4.123

3.  Simpson-Golabi-Behmel syndrome type 1 with subclinical hypothyroidism: A case report.

Authors:  Jing Zhang; Kai Mu; Haiyan Xu; Yuehua Guo; Zhijie Liu; Liling Wang; Jiahui Li; Fengjuan Zhang; Yan Kou; Xin Yuan
Journal:  Medicine (Baltimore)       Date:  2019-10       Impact factor: 1.817

  3 in total

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