Saldino-Mainzer syndrome

Related people

A combination of renal dysplasia, pigment dystrophy of cornea, cerebellar ataxia, and skeletal dysplasia.

Description

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.

Bibliography

  • 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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