Article

McKusick-Kaufman syndrome: Report of an instructive family

  1. John D. Vince1,*,
  2. Nicole J. Martin2,
  3. John M. Opitz Editor,
  4. James F. Reynolds Editor

Article first published online: 5 JUN 2005

DOI: 10.1002/ajmg.1320320206

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 32, Issue 2, pages 174–177, February 1989

Additional Information

How to Cite

Vince, J. D., Martin, N. J., Opitz, J. M. and Reynolds, J. F. (1989), McKusick-Kaufman syndrome: Report of an instructive family. Am. J. Med. Genet., 32: 174–177. doi: 10.1002/ajmg.1320320206

Author Information

  1. 1

    Port Moresby General Hospital, Boroko, Papua New Guinea, Herston, Queensland, Australia

  2. 2

    Cytogenetics Unit, Pathology Department, Royal Brisbane Hospital, Herston, Queensland, Australia

*Port Moresby General Hospital, Free Mail Bag, Boroko, Papua New Guinea

Publication History

  1. Issue published online: 5 JUN 2005
  2. Article first published online: 5 JUN 2005
  3. Manuscript Revised: 28 JUL 1988
  4. Manuscript Received: 14 MAR 1988

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

Get PDF (456K)

Keywords:

  • McKusick-Kaufman syndrome;
  • polydactyly;
  • congenital heart disease;
  • genital malformation;
  • autosomal recessive inheritance;
  • Melanesian;
  • multisystem involvement;
  • males and females;
  • hydrocolpos;
  • diagnostic difficulty;
  • surgical management;
  • antenatal diagnosis

Abstract

We report on two sisters and their brother, all of whom are affected by McKusick-Kaufman syndrome. This sibship confirms autosomal recessive inheritance and the occurrence of the syndrome in Melanesians. It also demonstrates multisystem involvement in both sexes and illustrates difficulties in the diagnosis and management of hydrocolpos.

Get PDF (456K)