Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I

Clin Genet. 1976 Feb;9(2):183-6. doi: 10.1111/j.1399-0004.1976.tb01565.x.


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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / complications*
  • Female
  • Humans
  • Kidney Failure, Chronic / complications*
  • Middle Aged
  • Orofaciodigital Syndromes / complications*
  • Polycystic Kidney Diseases / complications*