Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I.
Bilateral polycystic kidneys and chronic renal failure were observed in a 48-year-old woman with the classic clinical features of the oral-facial-digital syndrome, Type I (OFD-I). Since this association has been previously reported in two other patients, these findings suggest that polycystic kidneys may be a hitherto unrecognized manifestation of the oral-facial-digital syndrome.
D000015:Abnormalities, Multiple / Q000150:complications*; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications*; D008875:Middle Aged; D009958:Orofaciodigital Syndromes / Q000150:complications*; D007690:Polycystic Kidney Diseases / Q000150:complications*