WORLD JOURNAL OF PLASTIC SURGERY
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Volume 2, Issue 2 (2013)
WJPS 2013, 2(2): 115-118 |
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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
URL: http://wjps.ir/article-1-72-en.html
Madhumita Gupta *1 
, Ashwin Alke Pai1 , Abhimanyu Bhattacharya1 , Ravi Ramachandra1 , Raghavendra Sawarappa1 , Subhakanta Mohapatra1 , Aditya Kanoi1
, Ashwin Alke Pai1 , Abhimanyu Bhattacharya1 , Ravi Ramachandra1 , Raghavendra Sawarappa1 , Subhakanta Mohapatra1 , Aditya Kanoi1
1- Department of Plastic and Reconstructive Surgery, IPGME & R, Kolkata, India
Abstract: (9793 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.
Keywords: Apert syndrome; Anterior plagiocephaly, unilateral coronal synostosis; Symmetric syndactyly
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