Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome

Am J Med Genet. 1992 Sep 15;44(2):136-7. doi: 10.1002/ajmg.1320440203.

Abstract

The Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, "coarse" face, postaxial polydactyly, midline defects, and psychomotor development ranging from normal to mildly retarded. We report on an additional sporadic patient with novel manifestations, contributing to a more thorough delineation of this syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Cardiomyopathy, Dilated / genetics
  • Face / abnormalities
  • Genetic Linkage
  • Growth Disorders / genetics
  • Hernia, Diaphragmatic / genetics
  • Humans
  • Male
  • Nipples / abnormalities
  • Syndrome
  • X Chromosome