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

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Arrhythmias, Cardiac / diagnosis*
  • Arrhythmias, Cardiac / genetics
  • Beckwith-Wiedemann Syndrome / diagnosis*
  • Beckwith-Wiedemann Syndrome / genetics
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics
  • Gigantism / diagnosis*
  • Gigantism / genetics
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / genetics
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Prenatal Diagnosis*
  • Sotos Syndrome / diagnosis*
  • Sotos Syndrome / genetics

Supplementary concepts

  • Simpson-Golabi-Behmel syndrome