FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis
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چکیده
منابع مشابه
FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis.
Most cases of Apert syndrome are due to S252W or P253R mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Differences in the effects of S252W and P253R mutations on the clinical features of Apert syndrome have been studied, but little is known about the type of FGFR2 mutation in Apert syndrome with humeroradial synostosis. To study a correlation between the FGFR2 mutations and t...
متن کاملPresence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
Apert syndrome, characterised by craniosynostosis, craniofacial anomalies, and symmetrical syndactyly of the digits (cutaneous and bony fusion), has been associated with two canonical mutations in the FGFR2 gene (S252W, P253R) in the great majority of cases. Since these two alterations have been observed exclusively among these patients, it has been suggested that the S252W and P253R changes ma...
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ABSTRACT We present here a unique case of humeroradial synostosis. These anomalies are due to longitudinal failure of differentiation. Approximately 150 cases of humeroradial synostosis have been reported worldwide, the majority of which are familial in nature or associated with syndromes. The case presented here involves an infant aged 1½ months, born with bilateral humeroradial synostosis wit...
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Apert syndrome (AS) is one of at least nine disorders considered members of the fibroblast growth factor receptor (FGFR) -1, -2, and -3-related craniosynostosis syndromes. Nearly 100% of individuals diagnosed with AS carry one of two neighboring mutations on Fgfr2. The cranial phenotype associated with these two mutations includes coronal suture synostosis, either unilateral (unicoronal synosto...
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The aim of this case report was to present the combined orthodontic and surgical treatment of a patient with Apert syndrome in an adult stage. A 15 years old male patient with Apert syndrome was concerned about the appearance of his face and malocclusion. His profile was concave with a retruded maxilla and prominent lower lip. He had an Angle class I molar relationship with a 9.5 mm anterior op...
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ژورنال
عنوان ژورنال: Congenital Anomalies
سال: 2003
ISSN: 0914-3505,1741-4520
DOI: 10.1111/j.1741-4520.2003.tb01017.x