The McKusick-Kaufman syndrome: report of a case with some associations

Kotiloglu E., Kaya H., Guney I., Balci S.

TURKISH JOURNAL OF PEDIATRICS, vol.44, no.2, pp.176-179, 2002 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 44 Issue: 2
  • Publication Date: 2002
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.176-179
  • Hacettepe University Affiliated: No

Abstract

McKusick-Kaufman syndrome (MKS) is a rare autosomal recessive condition consisting of congenital hydrometrocolpos, polydactyly and congenital heart defect. We present a female stillborn, the product of non-consanguineous parents, who presented postaxial polydactyly on both feet, micrognathia and marked abdominal distension. Postmortem examination revealed bicornuated cystic uterus and intestinal malrotation. She also had flat left kidney and left hydroureter due to compression by the cystic mass.