Leprechaunism (Donohue's syndrome): a case report

Turk J Pediatr. 1993 Oct-Dec;35(4):319-22.

Abstract

Features of leprechaunism, including low-birth weight, a grotesque elfin face with clubbed nose, hirsutism, large low-set ears, enlarge external genitalia, distended abdomen with emaciated extremities, and growth and motor retardation were present in a 3-month-old girl. Because of parental consanguinity in this patient, a recessive mode of inheritance seems likely.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Face / abnormalities*
  • Female
  • Genitalia, Female / abnormalities*
  • Growth Disorders / genetics*
  • Hirsutism / genetics*
  • Humans
  • Infant
  • Mental Disorders / genetics*
  • Syndrome