Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia

Am J Med Genet A. 2012 Sep;158A(9):2245-9. doi: 10.1002/ajmg.a.35474. Epub 2012 Jul 17.

Abstract

The Simpson-Golabi-Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene. We describe a macrosomic 27-week preterm newborn with SGBS1 who presents a novel GPC3 mutation and emphasize the phenotypic aspects which allow a correct diagnosis neonatally in particular the rib malformations, hypoplasia of index finger and of the same fingernail, and 2nd-3rd finger syndactyly.

Publication types

  • Case Reports

MeSH terms

  • Arrhythmias, Cardiac / diagnosis*
  • Arrhythmias, Cardiac / genetics
  • Female
  • Fingers / abnormalities*
  • Gene Deletion
  • Genetic Diseases, X-Linked
  • Gigantism / diagnosis*
  • Gigantism / genetics
  • Glypicans / genetics
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Male
  • Nails, Malformed / genetics*
  • Pedigree
  • Ribs / abnormalities*

Substances

  • GPC3 protein, human
  • Glypicans

Supplementary concepts

  • Simpson-Golabi-Behmel syndrome

Associated data

  • OMIM/OMIM312870