anterior plagiocephaly in an atypical case of apert syndrome

نویسندگان

madhumita gupta department of plastic and reconstructive surgery, ipgme & r, kolkata, india

ashwin alke pai department of plastic and reconstructive surgery, ipgme & r, kolkata, india

abhimanyu bhattacharya department of plastic and reconstructive surgery, ipgme & r, kolkata, india

ravi ramachandra department of plastic and reconstructive surgery, ipgme & r, kolkata, india

چکیده

apert syndrome is a congenital craniosynostosis syndrome comprising of bilateral coronal synostosis , symmetric syndactyly of hands and feet and midface hypoplasia. we present an atypical phenotype of this syndrome with right sided unilateral coronal synostosis. however, type i apert hand and other clinical and radiological features suggestthe diagnosis. genetic analysis revealed an absence of the specific missense mutations in the fgfr 2 gene that is found in patients with this syndrome. we conclude that this patient represented a rare atypical variant of apert syndrome. further analysis is required to map the associated genotype.

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منابع مشابه

Anterior Plagiocephaly in an Atypical Case of Apert Syndrome

Apert syndrome is a congenital craniosynostosis syndrome comprising of bilateral coronal synostosis , symmetric syndactyly of hands and feet and midface hypoplasia. We present an atypical phenotype of this syndrome with right sided unilateral coronal synostosis. However, type I apert hand and other clinical and radiological features suggestthe diagnosis. Genetic analysis revealed an absence of ...

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Anterior Plagiocephaly in an Atypical Case of Apert Syndrome

Apert syndrome is a congenital craniosynostosis syndrome comprising of bilateral coronal synostosis , symmetric syndactyly of hands and feet and midface hypoplasia. We present an atypical phenotype of this syndrome with right sided unilateral coronal synostosis. However, type I apert hand and other clinical and radiological features suggestthe diagnosis. Genetic analysis revealed an absence of ...

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عنوان ژورنال:
world journal of plastic surgery

جلد ۲، شماره ۲، صفحات ۱۱۵-۱۱۸

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