نتایج جستجو برای: crouzon syndrome
تعداد نتایج: 621949 فیلتر نتایج به سال:
Crouzon syndrome is characterised by the premature fusion of cranial sutures. Recently the first genetic Crouzon mouse model was generated. In this study, Micro CT skull scannings of wild-type mice and Crouzon mice were investigated. Using nonrigid registration, a wild-type craniofacial mouse atlas was built. The atlas was registered to all mice providing parameters controlling the deformations...
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis
We have characterized a novel autosomal recessive Crouzon-like craniosynostosis syndrome in a 12-affected member family from Antakya, Turkey, the presenting features of which include: multiple suture synostosis, midface hypoplasia, variable degree of exophthalmos, relative prognathism, a beaked nose, and conductive hearing loss. Homozygosity mapping followed by targeted next-generation sequenci...
Crouzon Syndrome is a rare genetic disorder resulting from a mutation of the Fibroblast Growth Factor Receptor 2 Gene. The main presenting feature of this syndrome is craniofacial synostosis but multiple physical dysmorphic features have been reported. There is a dearth of literature detailing the presentation of this syndrome in the foot and lower limb. Therefore, this case report will describ...
Mutations in Fibroblast Growth Factor Receptor II (FGFR2) have been identified in patients with Crouzon and Pfeiffer syndrome, among which rare mutations of the intracellular tyrosine kinase domain. Correlating subtle phenotypes with each rare mutation is still in progress. In Necker-Enfants Malades Hospital, we identified three patients harboring three different pathogenic variants of the same...
Crouzon syndrome with acanthosis nigricans (CAN) is a very rare condition with an approximate prevalence of 1 per 1 million newborns. We add the first report on prenatal 2D and 3D ultrasound findings in CAN. In addition we present the postnatal 3D CT findings. The diagnosis was confirmed by molecular testing.
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