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Apert syndrome without craniosynostosis

  • Diego de Ângelis RamosEmail author
  • Hamilton Matushita
  • Daniel Dante Cardeal
  • Clarissa Nóbrega Gambarra Nascimento
  • Manoel Jacobsen Teixeira
Case Report
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Abstract

Background

Apert 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 presentation

Although 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.

Keywords

Apert syndrome Craniosynostosis Fibroblast growth factor receptors (FGFR)2 Atypical case 

Notes

Compliance with ethical standards

Conflict of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Hospital das Clínicas, School of MedicineUniversity of São PauloPinheirosBrazil

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