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Pitfalls in counselling: the craniosynostoses. [PDF]
Journal of Medical Genetics, 1991 We describe three families to highlight the variability of expression and penetrance that can occur in the craniosynostoses. In two of the families, gene carriers were only identified in retrospect by looking at photographs of other family members.
R, Marini +4 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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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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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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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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The surgical correction of coronal and metopic craniosynostoses
Journal of Neurosurgery, 1983✓ Procedures for relief of coronal synostosis and metopic synostosis have resulted in some undesirable sequelae. The authors present combined neurological and plastic surgical modifications to prevent additional synostoses, forehead ridging, and lateral orbital wall step-off. They recommend bifrontal craniotomy with lateral wall osteotomy into the body
J L, Marsh, H G, Schwartz
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An Epidemiological Study of Nonsyndromal Craniosynostoses
Journal of Craniofacial Surgery, 2011To compare our data with recent studies that have suggested a change in the distribution of the forms of nonsyndromal synostosis in the clinical population, we conducted a retrospective analysis of the diagnoses of children with isolated synostosis examined at a large craniofacial center between 1987 and 2009.
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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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Functional treatment of craniosynostoses during childhood
British Journal of Oral and Maxillofacial Surgery, 1998The aim of this article was to present a treatment strategy for complex craniosynostoses, such as Apert syndrome and Crouzon's disease, based on the author's experience of over 16 years. The most favourable results of primary decompression have been achieved by the radical osteoclastic procedure described by Powiertowski. Subsequent frontal advancement
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