Article
A clinical scoring system for early onset (neonatal) Marfan syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2022
Zarate Yuri A, Morris Shaine A, Blackshare Anna, Algaze Claudia A, Connor Brynn S, Kim Andrew J, Yutzey Katherine E, Miller Erin M, Weaver Kathryn Nicole, Collins Ronnie Thomas
Abstract excerpt
PURPOSE: This study aimed to develop objective diagnostic criteria for early onset Marfan syndrome (eoMFS) to facilitate early diagnosis and timely interventions. METHODS: On the basis of an extensive literature review and the responses from a survey distributed among providers with expertise in the diagnosis and management of eoMFS, we developed an age-based, diagnostic scoring system encompassing 10 features...
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