Unusual presentation of McKusick-Kaufman syndrome in a female Bedouin Arab baby

Eur J Pediatr Surg. 2005 Dec;15(6):446-8. doi: 10.1055/s-2005-865846.

Abstract

McKusick-Kaufman syndrome is a rare, autosomal, recessive disorder characterized by hydrometrocolpos, post-axial polydactyly, and congenital heart disease. Less than one hundred cases have been reported in the English literature to date, mainly in the Amish population; sporadic cases have also been described. We present a case of an Arab Bedouin girl who presented with features resembling this syndrome.

Publication types

  • Case Reports

MeSH terms

  • Arabs
  • Female
  • Humans
  • Hydrocolpos* / surgery
  • Hymen / abnormalities*
  • Infant
  • Polydactyly* / genetics
  • Syndrome
  • Uterine Diseases* / surgery