Variable phenotype in Kaufman-McKusick syndrome: report of an inbred Muslim family and review of the literature.
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.
Centre for Human Genetics, Sheffield Children's Hospital, UK. dhavekumar@aol.com
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D000015:Abnormalities, Multiple / Q000208:ethnology / Q000235:genetics / Q000473:pathology*; D003241:Consanguinity; D005145:Face / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D007514:Islam; D008297:Male; D010154:Pakistan; D010375:Pedigree; D010413:Penis / Q000002:abnormalities; D010641:Phenotype