Prenatal diagnosis of Simpson-Golabi-Behmel syndrome

Am J Med Genet A. 2016 Dec;170(12):3258-3264. doi: 10.1002/ajmg.a.37873. Epub 2016 Sep 9.


Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth syndrome and it is usually diagnosed postnatally, on the basis of phenotype. Prenatal ultrasonography may show fetal alterations, but they are not pathognomonic and most of them are frequently detectable only from the 20th week of gestation. Nevertheless, early diagnosis is important to avoid neonatal complications and make timely and informed decisions about the pregnancy. We report on four fetuses from two unrelated families, in whom the application of whole exome sequencing and array-CGH allowed the identification of GPC3 alterations causing SGBS. The careful follow up of pregnancies and more sophisticated analysis of ultrasound findings led to the identification of early prenatal alterations, which will improve the antenatal diagnosis of SGBS. © 2016 Wiley Periodicals, Inc.

Keywords: Simpson-Golabi-Behmel syndrome; early prenatal diagnosis; fetal ultrasound findings; genome-wide genetic analyses.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Induced
  • Adult
  • Arrhythmias, Cardiac / diagnosis*
  • Arrhythmias, Cardiac / genetics
  • Autopsy
  • Comparative Genomic Hybridization
  • Exome
  • Female
  • Fetus
  • Genes, X-Linked
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics
  • Gigantism / diagnosis*
  • Gigantism / genetics
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / genetics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Male
  • Mutation
  • Pedigree
  • Phenotype*
  • Prenatal Diagnosis
  • Ultrasonography, Prenatal

Supplementary concepts

  • Simpson-Golabi-Behmel syndrome