نتایج جستجو برای: crouzon syndrome
تعداد نتایج: 621949 فیلتر نتایج به سال:
Dominantly acting, allelic mutations of the fibroblast growth factor receptor 2 (FGFR2) gene have been described in five craniosynostosis syndromes. In Apert syndrome, characterised by syndactyly of the hands and feet, recurrent mutations of a serine-proline dipeptide (either Ser252Trp or Pro253Arg) in the linker between the IgII and IgIII extracellular immunoglobulin-like domains, have been do...
BACKGROUND Craniofacial diseases constitute an important component of the surgical disease burden in low- and middle-income countries. The consideration to introduce craniofacial surgery into such settings poses different questions, risks, and challenges compared with cleft or other forms of plastic surgery. We report the evolution, innovations, and challenges of a 30-year international craniof...
OBJECT The aim of this study was to assess the efficacy of endoscopic third ventriculostomy (ETV) in the treatment of hydrocephalus in children with complex craniosynostosis. METHODS Medical charts from 2194 children treated at the Craniofacial Unit of Necker Enfants Malades between 1995 and 2008 were reviewed. Among them, 293 were affected by a syndromic faciocraniosynostosis. The management...
Fibroblast growth factor (FGF) signaling mutations are a frequent contributor to craniofacial malformations including midfacial anomalies and craniosynostosis. FGF signaling has been shown to control cellular mechanisms that contribute to facial morphogenesis and growth such as proliferation, survival, migration and differentiation. We hypothesized that FGF signaling not only controls the magni...
woman of4 ft 11 in. in height. Her facies showed typical Crouzon deformities of beaked nose, hypertelorism, moderate ocular proptosis, and maxillary hypoplasia (Fig. 1). The skull showed residual acrocephaly modified by previous cranioplasties. Examination of the back revealed a double primary scoliosis with mild right thoracic and left lumbar rotation. There was a valgus deformity of 100 at th...
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