دوره 2، شماره 2 - ( 4-1392 )                   جلد 2 شماره 2 صفحات 115-118 | برگشت به فهرست نسخه ها

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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-fa.html
Anterior Plagiocephaly in an Atypical Case of Apert Syndrome. مجله جهانی جراحی پلاستیک. 1392; 2 (2) :115-118

URL: http://wjps.ir/article-1-72-fa.html


چکیده:   (7158 مشاهده)
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.
     
نوع مطالعه: گزارش مورد | موضوع مقاله: تخصصي
دریافت: 1391/12/13 | پذیرش: 1392/3/22 | انتشار: 1392/3/22

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