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.
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