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

doi:10.1097/00019605-199807000-00002

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Article

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

Clinical dysmorphology - 1 Jul 1998

Kumar D, Primhak R A, Kumar A

Abstract excerpt

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 prev...

Topics

Abnormalities, Multiple
Consanguinity
Face
Female
Foot Deformities, Congenital
Genes, Recessive
Hand Deformities, Congenital
Humans
Infant, Newborn
Islam
Male
Pakistan
Pedigree
Penis
Phenotype

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