Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019
Apert syndrome without craniosynostosis.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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de Ângelis Ramos Diego, Matushita Hamilton, Cardeal Daniel Dante, Nascimento Clarissa Nóbrega Gambarra, Teixeira Manoel Jacobsen
Аннотация
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.
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.