Variable phenotype in Kaufman-McKusick syndrome: report of an inbred Muslim family and review of the literature

Clin Dysmorphol. 1998 Jul;7(3):163-70. doi: 10.1097/00019605-199807000-00002.


Multiple congenital anomalies (MCA) in two siblings and digit abnormalities in four related individuals from a large highly inbred Muslim family are described. The pattern of MCA is consistent with the autosomal recessive Kaufman-McKusick syndrome [MIM 236700]. The present report reviews the previously published reports on this uncommon MCA dysmorphic syndrome and draws attention to the marked variation in the phenotype.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / ethnology
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Consanguinity*
  • Face / abnormalities
  • Female
  • Foot Deformities, Congenital
  • Genes, Recessive
  • Hand Deformities, Congenital
  • Humans
  • Infant, Newborn
  • Islam
  • Male
  • Pakistan
  • Pedigree
  • Penis / abnormalities
  • Phenotype