International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
Open Access | Fully Refereed | Peer Reviewed

ISSN: 2319-7064


Downloads: 95

Case Studies | Medical Surgical | India | Volume 8 Issue 2, February 2019


Aperts Syndrome - A Rare Case Report

Dr Daggula Devi Bharathi, Dr. Santhi Sri Appireddy, Dr. M Chenchi Reddy


Abstract: Aperts syndrome is the rare acrocephalosyndactyly syndrome type 1, characterized by craniosynostosis, dysmorphic facial features and severe syndactyly of hands and feet. It shows an autosomal dominant inheritance pattern assigned to mutations in fibroblast growth factor receptor gene. We present a case of a 8 year-old female patient diagnosed on physical examination with Aperts syndrome based on acrocephaly, prominent forehead, ocular hypertelorism, proptosis, short and broad nose, pseudoprognathism, dental crowding, webbed neck, and bilateral syndactyly of hands and feet. The multiple phenotypic signs of Aperts syndrome make multidisciplinary team, including dentist, neurosurgeon, plastic surgeon, physiatrist, ophthalmologist, perinatalogist and geneticist, essential for successful management.


Keywords: Acrocephalosyndactyly, Apert syndrome, craniosynostosis


Edition: Volume 8 Issue 2, February 2019,


Pages: 1807 - 1809


How to Cite this Article?

Dr Daggula Devi Bharathi, Dr. Santhi Sri Appireddy, Dr. M Chenchi Reddy, "Aperts Syndrome - A Rare Case Report", International Journal of Science and Research (IJSR), https://www.ijsr.net/get_abstract.php?paper_id=ART20195677, Volume 8 Issue 2, February 2019, 1807 - 1809

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