1. Anterior Plagiocephaly in an Atypical Case of Apert Syndrome
- Author
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Gupta, Madhumita, Pai, Ashwin Alke, Bhattacharya, Abhimanyu, Ramachandra, Ravi, Sawarappa, Raghavendra, Mohapatra, Subhakanta, and Kanoi, Aditya
- Subjects
musculoskeletal diseases ,congenital, hereditary, and neonatal diseases and abnormalities ,Anterior plagiocephaly ,unilateral coronal synostosis ,Symmetric syndactyly ,Case Report ,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.
- Published
- 2013