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

F. Gurrieri, M. Cappa, G. Neri

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)136-137
Number of pages2
JournalAmerican Journal of Medical Genetics
Volume44
Issue number2
Publication statusPublished - 1992

Keywords

  • coarse face
  • developmental delay
  • diaphragmatic hernia
  • dilated cardiomyopathy
  • overgrowth
  • X-linked syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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