A case report of Apert syndrome with review of literatures

نویسندگان

چکیده

Apert syndrome is a rare which presents with craniosynostosis, severe syndactyly, and dysmorphic facial features. It mainly caused by new mutation in fibroblast growth factor receptor-2 gene. Up-regulation of this gene results bone fusion nuclear deficiency the transcription FoxO1 key pathogenesis acne. We present herein 19-year-old man nodulocystic acne associated acrocephaly, prominent forehead, ocular hypertelorism, short broad nose, high arched palate, maxillary hypoplasia, dental crowding ectopia, bilateral syndactyly hands feet. was diagnosed for him based on mentioned clinical findings. Isotretinoin 20 mg/day prescribed significant improvement two months later. Severe early puberty synostosis hallmark we should mindful these syndromic cases dermatology clinic.

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Apert Syndrome: A Case Report

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Apert syndrome: review and report a case.

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Apert syndrome: A case report and review of the literature

Apert syndrome is the rare acrocephalosyndactyly syndrome type 1, characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. It demonstrates autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene. Presently described is case of a 19-year-old female patient diagnosed on physical examination with Apert syndro...

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ژورنال

عنوان ژورنال: Our Dermatology Online

سال: 2022

ISSN: ['2081-9390']

DOI: https://doi.org/10.7241/ourd.2022e.38