Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome

Christopher B. Griffith, Richard C. Probert, Gail H. Vance

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth disorder characterized by prenatal onset of overgrowth, characteristic facies, and frequently mild to severe mental retardation. In addition, a number of other characteristics including supernumerary nipples, a grooved tongue or chin, chest wall malformations, and mild genital anomalies are frequently seen as well. Here we present three brothers with Simpson-Golabi-Behmel syndrome, all of which had cryptorchidism with one also having chordee of the penis, hypospadius, and penoscrotal transposition. While severe genital anomalies have been reported rarely in patients with Simpson-Golabi-Behmel syndrome, no individuals with such anomalies prior to this report had survived beyond the neonatal period.

Original languageEnglish (US)
Pages (from-to)2484-2488
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number11
DOIs
StatePublished - Nov 1 2009

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Keywords

  • Ambiguous genitalia
  • Genital anomalies
  • Overgrowth
  • SGBS
  • Simpson-Golabi-Behmel
  • Simpson-Golabi-Behmel syndrome
  • X-linked

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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