A combination of renal dysplasia, pigment dystrophy of cornea, cerebellar ataxia, and skeletal dysplasia.
A combination of renal dysplasia, pigment dystrophy of cornea, cerebellar ataxia, and skeletal dysplasia with cone-shaped epiphyses of the fingers and toes, and short irregularly ossified femoral heads and necks. A familial disorder of unknown etiology. Inheritance is autosomal recessive.
- F. Mainzer, R. M. Saldino, M. B. Ozonoff, H. Minagi:
Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities.
American Journal of Medicine, New York, 1970, 49: 556-562.
- R. M. Saldino, F. Mainzer:
Cone-shaped epiphyses (CSE) in siblings with hereditary renal disease and retinitis pigmentosa.
Radiology, Easton, Pennsylvania, 1971, 98: 39-45.
What is an eponym?
An eponym is a word derived from the name of a person, whether real or fictional. A medical eponym is thus
any word related to medicine, whose name is derived from a person.
What is Whonamedit?
Whonamedit.com is a biographical dictionary of medical eponyms.
It is our ambition to present a complete survey of all medical phenomena named for a person,
with a biography of that person.
Whonamedit? does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only.
No information found here must under any circumstances be used for medical purposes, diagnostically,
therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be
affected, by any condition mentioned here: see a doctor.