2018Türk Pediatri ArşiviOpen access

Two patients with Apert syndrome with different mutations: the importance of early diagnosis

Esra Işık, Tahir Atık, Hüseyin Önay, Ferda Özkınay

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Abstract

gene. Case-1 underwent surgery for craniosynostosis at age 10 months and he was developmentally normal during the 2 year follow-up period. As a conclusion, early surgical intervention should be considered in cases of Apert syndrome to prevent intellectual disability.

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What this paper is about

gene. Case-1 underwent surgery for craniosynostosis at age 10 months and he was developmentally normal during the 2 year follow-up period. As a conclusion, early surgical intervention should be considered in cases of Apert syndrome to prevent intellectual disability.

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OpenAlex reports 5 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

gene. Case-1 underwent surgery for craniosynostosis at age 10 months and he was developmentally normal during the 2 year follow-up period. As a conclusion, early surgical intervention should be considered in cases of Apert syndrome to prevent intellectual disability.

Key concepts: Apert syndrome, Craniosynostosis, Syndactyly, Medicine, Dysostosis, Craniosynostoses, Fibroblast growth factor receptor 2, Pediatrics

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