Familial ochronosis.
We report the case of a 72-year-old female with alkaptonuric ochronosis and symptomatic aortic stenosis requiring aortic valve replacement. She was the seventh of nine children, and four of the nine siblings were diagnosed as having ochronosis. Only one, however presented with aortic stenosis.
Cortina
R
R
Brook General Hospital, London, U.K.
Morís
C
C
Astudillo
A
A
Gosálbez
F
F
Cortina
A
A
D000368:Aged; D001024:Aortic Valve Stenosis / Q000150:complications / Q000601:surgery; D005260:Female; D006801:Humans; D009794:Ochronosis / Q000150:complications / Q000235:genetics*; D010375:Pedigree