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2019
Abstract This chapter reviews background information about the incidence, risk factors, genetics, recurrence risk, and epidemiology of single suture and multiple suture craniosynostosis including isolated and syndromic varieties. The discussion on the differential diagnosis of craniosynostosis summarizes its common causes, including ...
Robin D. Clark, Cynthia J. Curry
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Abstract This chapter reviews background information about the incidence, risk factors, genetics, recurrence risk, and epidemiology of single suture and multiple suture craniosynostosis including isolated and syndromic varieties. The discussion on the differential diagnosis of craniosynostosis summarizes its common causes, including ...
Robin D. Clark, Cynthia J. Curry
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Craniosynostoses: Phenotypic/molecular correlations
American Journal of Medical Genetics, 1995From the discovery of the first known human homeobox mutation in MSX2 for craniosynostosis of the Boston type by Jams to the recent report of 2 mutations in FGFR2 in Apert syndrome by Wilkie, it is clear that the molecular aspects of syndromes with craniosynostosis are becoming known at a dizzying pace. Four of the syndromes involve mutations in FGFR2.
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Genetic causes of syndromic craniosynostoses
European Journal of Paediatric Neurology, 2013Syndromic craniosynostose exhibit variable clinical and genetic heterogeneity. Many of this disorders are caused by mutations in the fibroblast growth factor receptor genes: FGFR2, FGFR3 (encoding fibroblast growth factor receptors), TWIST1 (functions as an upstream regulator of FGFRs) and EFNB1 (gene encoding fibrillin1).
Aleksandra, Jezela-Stanek +1 more
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Visual Surveillance in Craniosynostoses
American Orthoptic Journal, 2014Craniosynostosis is the premature fusion of one or more cranial sutures that may be isolated or syndromic. These children can have multiple developmental issues including speech, hearing, and vision, in addition to the aesthetic issue of an abnormally shaped skull and midfacial hypoplasia. As the aesthetic outcomes of craniofacial surgery have improved,
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External craniofacial osteodistraction in complex craniosynostoses
Child's Nervous System, 2012The use of distraction osteogenesis is the first option in the treatment of craniofacial hypoplasia. Both internal craniofacial distractor devices (ICDD) and external craniofacial distractor devices (ECDD) can improve visual and respiratory functions in patients with craniofacial synostosis significantly.
Gasparini, Giulio +3 more
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Remarks on the Surgical Treatment of the Craniosynostoses
min - Minimally Invasive Neurosurgery, 1975Technical aspects and results of a surgical procedure for craniosynostoses are exposed. Fragmentation-recomposition of the anterior part of the cranial vault in cases of brachi-, acro-, turri- and trigono-cephaly gives both an effective decompression and a satisfactory cosmetic result.
SEHRBUNDT VIALE E +1 more
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Molecular and cellular bases of syndromic craniosynostoses
Expert Reviews in Molecular Medicine, 2003Premature fusion of cranial sutures underlies the clinical condition of ‘craniosynostosis’, a common human disorder that occurs in both nonsyndromic and syndromic forms. The subgroup of syndromic craniosynostoses usually associates limb abnormalities and facial dysmorphism to skull distortion.
Bonaventure, Jacky, El Ghouzzi, Vincent
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Diagnostic imaging in the management of craniosynostoses
European Radiology, 2006Craniosynostoses are the most frequent craniofacial malformations. However, with a prevalence of 3-6 cases per 10,000 live births they are amongst the rarely seen diseases and their definite diagnosis thus poses a challenge to the physician. When an abnormal calvarial configuration is detected, a radiological evaluation is necessary to characterize the
Bibiana, Kotrikova +3 more
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