title: Anterior plagiocephaly in an atypical case of apert syndrome.
abstract: 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.
authors.affiliation: Department of Plastic and Reconstructive Surgery, IPGME & R, Kolkata, India.
authors.forename: Madhumita
authors.initials: M
authors.lastname: Gupta
authors.affiliation: Department of Plastic and Reconstructive Surgery, IPGME & R, Kolkata, India.
authors.forename: Ashwin Alke
authors.initials: AA
authors.lastname: Pai
authors.affiliation: Department of Plastic and Reconstructive Surgery, IPGME & R, Kolkata, India.
authors.forename: Abhimanyu
authors.initials: A
authors.lastname: Bhattacharya
authors.affiliation: Department of Plastic and Reconstructive Surgery, IPGME & R, Kolkata, India.
authors.forename: Ravi
authors.initials: R
authors.lastname: Ramachandra
authors.affiliation: Department of Plastic and Reconstructive Surgery, IPGME & R, Kolkata, India.
authors.forename: Raghavendra
authors.initials: R
authors.lastname: Sawarappa
authors.affiliation: Department of Plastic and Reconstructive Surgery, IPGME & R, Kolkata, India.
authors.forename: Subhakanta
authors.initials: S
authors.lastname: Mohapatra
authors.affiliation: Department of Plastic and Reconstructive Surgery, IPGME & R, Kolkata, India.
authors.forename: Aditya
authors.initials: A
authors.lastname: Kanoi
keywords: Anterior plagiocephaly; Apert syndrome; Symmetric syndactyly; unilateral coronal synostosis