Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.
A three generation family with orofaciodigital syndrome type I is described. Several family members had been thought to suffer from autosomal dominant polycystic kidney disease but examination of the proband led to establishment of the correct diagnosis. The genetic implications for the offspring of the affected women and other family members were significantly altered.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008875:Middle Aged; D009958:Orofaciodigital Syndromes / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome