Apert syndrome without craniosynostosis
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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.
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.
KeywordsApert syndrome Craniosynostosis Fibroblast growth factor receptors (FGFR)2 Atypical case
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Conflict of interest
On behalf of all authors, the corresponding author states that there is no conflict of interest.
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