Ataxia-Telangiectasia
- 1 February 1960
- journal article
- research article
- Published by American Medical Association (AMA) in A.M.A. Journal of Diseases of Children
- Vol. 99 (2) , 238-241
- https://doi.org/10.1001/archpedi.1960.02070030240016
Abstract
Ataxia-telangiectasia is a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia, and frequent pulmonary infection. The first case report1of the syndrome was by Madame Louis-Bar, in 1941. No further reports appeared until 1957, when three further publications occurred on this subject, only one of these being available to me.2 Two further publications were made in 1958, one by Centerwall and Miller3and the other by Boder and Sedgewick.4This latter report amplifies an earlier preliminary report made in 1957. Centerwall and Miller list 16 cases, reported with the addition of 4 other cases brought to their notice by personal communication. These 20 cases were derived from 12 families, and in 7 of these families 2 children were involved. The sex incidence was 12 girls and 8 boys. Autopsy findings have been reported in four cases. The main features of the syndrome in cases so farKeywords
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