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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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 previously published reports on this uncommon MCA dysmorphic syndrome and draws attention to the marked variation in the...

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

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