Anterior plagiocephaly in an atypical case of apert syndrome.
Madhumita Gupta, Ashwin Pai, Abhimanyu Bhattacharya, Ravi Ramachandra, Raghavendra Sawarappa, Subhakanta Mohapatra, Aditya V. Kanoi
Abstract
Madhumita Gupta, Ashwin Pai, Abhimanyu Bhattacharya, Ravi Ramachandra, Raghavendra Sawarappa, Subhakanta Mohapatra, Aditya V. Kanoi
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.
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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.
Key concepts: Apert syndrome, Medicine, Syndactyly, Dysostosis, Craniosynostosis, Synostosis, Craniosynostoses, Missense mutation