Female counterpart of shawl scrotum in Aarskog-Scott syndrome

Int Braz J Urol. 2006 Jul-Aug;32(4):459-61. doi: 10.1590/s1677-55382006000400014.

Abstract

Aarskog-Scott syndrome (ASS) is an X-linked disorder characterized by facial, skeletal and genital anomalies, including penoscrotal transposition in males. We report on a girl from a family with ASS who exhibits a transposition of the clitoris.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Clitoris / abnormalities*
  • Face / abnormalities*
  • Female
  • Genetic Diseases, X-Linked / genetics*
  • Guanine Nucleotide Exchange Factors / genetics
  • Humans
  • Hypertelorism / genetics
  • Infant, Newborn
  • Male
  • Penis / abnormalities
  • Syndrome

Substances

  • FGD1 protein, human
  • Guanine Nucleotide Exchange Factors