Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome

Am J Med Genet. 1988 May-Jun;30(1-2):287-99. doi: 10.1002/ajmg.1320300130.

Abstract

We report on another family with the so-called "gigantism-dysplasia syndrome", an X-linked condition characterized by pre- and postnatal overgrowth, characteristic face with apparent coarseness, dysplastic changes in several tissues, and mild intellectual impairment. This condition has been called the Golabi-Rosen syndrome; however, we agree that is the same entity as that described, in a milder form, by Simpson et al in 1975 and by Behmel et al in 1984. Therefore, we suggest that this entity be designated the Simpson-Golabi-Behmel syndrome. The manifestations in affected individuals suggest that this condition represents an X-linked encephalo-tropho-schisis syndrome.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Child
  • Face / abnormalities
  • Female
  • Genetic Linkage*
  • Gigantism / genetics*
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Muscle Hypotonia / genetics
  • Pedigree
  • X Chromosome*