anterior plagiocephaly in an atypical case of apert syndrome
نویسندگان
چکیده
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 ...
متن کاملAnterior 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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متن کاملApert syndrome - clinical case.
Apert syndrome - acrocephalosyndactyly - is a rare autosomal dominant disorder representing 1:65 000 cases of living newborns. Characteristic malformations of the Apert syndrome are early craniostenosis, microviscerocranium and II-V finger syndactyly of hand and toes with proximal phalanx of the bilateral thumb "in delta". It is difficult to determine prenatal diagnosis in the second quarter, w...
متن کاملApert Syndrome: A Case Report
Apert syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malformation and symmetrical syndactyly. We present a 10-month-old infant having all the features of classical Apert syndrome. How to cite this article: Khan S, Chatra L, Shenai P, Veena KM. Apert Syndrome: A Case Report. Int J Clin Pediatr Dent 2012; 5(3):203-206.
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world journal of plastic surgeryجلد ۲، شماره ۲، صفحات ۱۱۵-۱۱۸
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