Author/Authors :
Gupta، Madhumita نويسنده Department of Plastic and Reconstructive Surgery, IPGME & R, Kolkata, India , , Pai، Ashwin Alke نويسنده Department of Plastic and Reconstructive Surgery, IPGME & R, Kolkata, India , , Bhattacharya، Abhimanyu نويسنده Department of Plastic and Reconstructive Surgery, IPGME & R, Kolkata, India , , Ramachandra، Ravi نويسنده Department of Plastic and Reconstructive Surgery, IPGME & R, Kolkata, India , , Sawarappa، Raghavendra نويسنده Department of Plastic and Reconstructive Surgery, IPGME & R, Kolkata, India , , Mohapatra، Subhakanta نويسنده Department of Plastic and Reconstructive Surgery, IPGME & R, Kolkata, India , , Kanoi، Aditya نويسنده Department of Plastic and Reconstructive Surgery, IPGME & R, Kolkata, India ,
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.
