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.
Kumar
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Centre for Human Genetics, Sheffield Children's Hospital, UK. dhavekumar@aol.com
Primhak
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RA
Kumar
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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