Please use this identifier to cite or link to this item:
https://observatorio.fm.usp.br/handle/OPI/31735
Title: | Apert syndrome without craniosynostosis |
Authors: | RAMOS, Diego de Angelis; MATUSHITA, Hamilton; CARDEAL, Daniel Dante; NASCIMENTO, Clarissa Nobrega Gambarra; TEIXEIRA, Manoel Jacobsen |
Citation: | CHILDS NERVOUS SYSTEM, v.35, n.3, p.565-567, 2019 |
Abstract: | BackgroundApert syndrome is a rare form of syndromic craniosynostosis, also known as acrocephalosyndactyly, which is a disorder characterized by a unique set of craniofacial, hand, and foot abnormalities. Diagnosis is made through a genetic analysis, where the mutation of FGFR2, Ser252Trp, and Pro253Arg confirms the diagnosis.Case presentationAlthough craniosynostosis is the most common characteristic in clinical presentation, we present an atypical case of a one-and-a-half-year-old girl with Apert syndrome confirmed by genetic testing but without craniosynostosis. |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MNE Artigos e Materiais de Revistas Científicas - HC/ICHC Artigos e Materiais de Revistas Científicas - LIM/26 |
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art_RAMOS_Apert_syndrome_without_craniosynostosis_2019.PDF Restricted Access | publishedVersion (English) | 767.7 kB | Adobe PDF | View/Open Request a copy |
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