Anterior plagiocephaly in an atypical case of apert syndrome

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...

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Bibliographic Details
Published inWorld journal of plastic surgery Vol. 2; no. 2; pp. 115 - 118
Main Authors Gupta, Madhumita, Pai, Ashwin Alke, Bhattacharya, Abhimanyu, Ramachandra, Ravi, Sawarappa, Raghavendra, Mohapatra, Subhakanta, Kanoi, Aditya
Format Journal Article
LanguageEnglish
Published Iran Iranian Society for Plastic Surgeons 01.06.2013
Subjects
Case Report
unilateral coronal synostosis
Anterior plagiocephaly
Symmetric syndactyly
Apert syndrome
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Summary: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.
ISSN:2228-7914
2252-0724