Robinow or "Fetal Face Syndrome" in a Male Infant With Ambiguous Genitalia and Androgen Receptor Deficiency

Eur J Pediatr. 1990 Jun;149(9):615-7. doi: 10.1007/BF02034745.

Abstract

Typical features of the "fetal face" or Robinow syndrome are reported in a male infant who presented with ambiguous genitalia and persistence of the Mullerian ducts. Histology of the testes was normal whereas endocrinological studies showed partial deficiency of androgen receptors.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Arm / abnormalities
  • Face / abnormalities*
  • Genitalia, Male / abnormalities*
  • Humans
  • Infant, Newborn
  • Male
  • Mullerian Ducts / abnormalities
  • Receptors, Androgen / deficiency*
  • Syndrome

Substances

  • Receptors, Androgen