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