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Ataxia Telangiectasia: Presentation and Diagnostic Delay

R Devaney, S Pasalodos, M Suri, A Bush, JM Bhatt. Arch Dis Child. 2017;102(4):328–330 Ataxia-telangiectasia (A-T) is a rare, inherited, multisystemic disease involving the nervous, immune, and respiratory systems. The… Click to show full abstract

R Devaney, S Pasalodos, M Suri, A Bush, JM Bhatt. Arch Dis Child. 2017;102(4):328–330 Ataxia-telangiectasia (A-T) is a rare, inherited, multisystemic disease involving the nervous, immune, and respiratory systems. The purpose of this study was to determine if there is a delay in presentation and diagnostic confirmation in children who are eventually diagnosed with A-T. A total of 79 children attending the National Pediatric A-T Clinic in Nottingham, England, seen since 2009 were included. Data were collected by retrospective chart …

Keywords: telangiectasia presentation; ataxia telangiectasia; presentation diagnostic; diagnostic delay

Journal Title: Pediatrics
Year Published: 2017

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