منابع مشابه
Benign familial fleck retina.
A family with a benign form of fleck retina is described. Seven out of 10 siblings were affected. The consanguinious parents were both normal. The fundi were massively invaded by lesions which appeared as discrete, bright white or yellow flecks situated well behind the retinal blood vessels. The macula was always free. Fluorescein studies revealed a healthy macula and retinal and choroidal bloo...
متن کاملBenign familial polycythaemia.
An English family suffering from thalassaemia minor is described. Three generations are affected, and all the affected members had a considerably raised red cell count in the presence of slight or moderate anaemia, obviously abnormal peripheral films, and only slightly reduced M.C.H.C. values; and each had a moderately raised haemoglobin A(2) level, though foetal haemoglobin levels were normal....
متن کاملFamilial benign copper deficiency.
Hypocupraemia with normal caeruloplasmin levels was found in a 21-month-old boy admitted to hospital because of repeated seizures and failure to thrive. He had blonde curly hair, spurring of the femora and tibiae, and mild anaemia, but his mental development, electroencephalogram, and structure of the hair on microscopical examination were normal. There was a general improvement in his conditio...
متن کاملBenign familial neonatal convulsions.
Benign familial neonatal convulsions are a rare genetic seizure disorder inherited as an autosomal dominant trait. They consist of brief episodes of seizures, recurring during the first few days or weeks of life in otherwise normal babies; their prognosis is good. We report a family in which at least 12 members in three generations presented with this condition; they all had an excellent outcome.
متن کاملFamilial essential ("benign") chorea.
A family is described with essential non-progressive chorea occurring in an autosomal dominant inheritance pattern over four generations. A few families with an apparently similar disorder have been reported previously. This condition is characterized by early childhood onset of chorea which is not progressive and is compatible with a long life. It is not associated with dementia, seizures, rig...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1980
ISSN: 0007-1161
DOI: 10.1136/bjo.64.9.652