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.
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Authors | C A Moreira-Filho, I Neustein |
Journal | Journal of medical genetics
(J Med Genet)
Vol. 16
Issue 2
Pg. 125-8
(Apr 1979)
ISSN: 0022-2593 [Print] England |
PMID | 572429
(Publication Type: Case Reports, Journal Article)
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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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