A presumptive new variant of Norrie's disease.
نویسندگان
چکیده
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.
منابع مشابه
Norrie's disease in an Asian family.
Norrie's disease, a congenital progressive oculo-acoustico-cerebral degenerative condition, is a sex linked recessive disorder. Previously described as atrophia oculi congeneti, it is associated with bilateral pseudotumour of the retina, lens, and corneal opacities, and phthisis bulbi. Some patients develop progressive deterioration of mental function and hearing. We report a Sri Lankan family ...
متن کاملPrenatal exclusion of Norrie's disease.
We report on the use of DNA marker probes and linkage analysis to exclude Norrie's disease in the male fetus of a high risk carrier. There are no clinical markers in females carrying the Norrie's disease gene; thus DNA linkage analysis is an essential technique in the management of families 'at-risk' for this severe ophthalmic disease. The principles of DNA linkage are discussed.
متن کاملBilateral Norrie's disease in identical twins.
A case of Norrie's disease in an identical twins is reported. No positive family history was obtained. The couple had no other children. The older of the twins died at the age of 9 months of uncertain cause. To the best of my knowledge this is the first case of Norrie's disease reported in Malaysia. And its occurrence in an identical twins is very rare.
متن کاملProbably Norrie's disease due to mutation. Two sporadic sibships of two males each, a necropsy of one case, and, given Norrie's disease, a calculation of the gene mutation frequency.
Two sibships, each with two affected males but no other affected family members, are described. All four patients at birth had small eyes with white masses visible behind clear lenses. Support for a diagnosis of Norrie's disease lies in the probable mental retardation and sudden death of one child and mental retardation in the other in one of the families, and strong support in the sensorineura...
متن کاملManifesting heterozygosity in Norrie's disease?
Accepted for publication 29 June 1993 It is well recognised that Norrie's disease is an X linked disorder causing blindness in early infancy, often in association with hearing loss and/or psychomotor retardation.' The diagnosis is established by the finding of congenital pseudoglioma in a male infant with either typical systemic features or a family history of congenital blindness in male relat...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 16 2 شماره
صفحات -
تاریخ انتشار 1979