Anterior Plagiocephaly in an Atypical Case of Apert Syndrome
نویسندگان
چکیده مقاله:
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.
منابع مشابه
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 clinical and radiological features suggestthe diagnosis. genetic analysis revealed an absence of ...
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عنوان ژورنال
دوره 2 شماره None
صفحات 115- 118
تاریخ انتشار 2013-07
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