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A presumptive new variant of Norrie's disease.

Abstract
The present report describes a Brazilian Negro sibship with six males affected by a presumptive new variant of Norrie's disease, an X-linked congenital oculo-acoustical-cerebral degeneration. In addition to the typical stigmata of the disease, all the patients were microcephalic and two of them had cryptorchidism. Possible non-genetic aetiology was investigated with negative results. Xg blood group studies were informative and the lod scores are given, together with those for two previously reported families with Norrie's disease.
AuthorsC A Moreira-Filho, I Neustein
JournalJournal of medical genetics (J Med Genet) Vol. 16 Issue 2 Pg. 125-8 (Apr 1979) ISSN: 0022-2593 [Print] England
PMID572429 (Publication Type: Case Reports, Journal Article)
Topics
  • Adolescent
  • Child
  • Child, Preschool
  • Female
  • Genes, Recessive
  • Genetic Variation
  • Hearing Loss, Sensorineural (genetics)
  • Humans
  • Intellectual Disability (genetics)
  • Male
  • Pedigree
  • Retinal Degeneration (genetics)
  • Syndrome
  • X Chromosome

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