Volume 2, Issue 2 (7-2013)                   wjps 2013, 2(2): 115-118 | Back to browse issues page

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Gupta M, Pai A A, Bhattacharya A, Ramachandra R, Sawarappa R, Mohapatra S et al . Anterior Plagiocephaly in an Atypical Case of Apert Syndrome. wjps. 2013; 2 (2) :115-118
URL: http://wjps.ir/article-1-72-en.html
Department of Plastic and Reconstructive Surgery, IPGME & R, Kolkata, India
Abstract:   (7163 Views)
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.
Full-Text [PDF 258 kb]   (1823 Downloads)    
Type of Study: case report | Subject: Special
Received: 2013/03/3 | Accepted: 2013/06/12 | Published: 2013/06/12

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