Sagittal Craniosynostosis
Mostrando 1-5 de 5 artigos, teses e dissertações.
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1. Alterações antropométricas na base do crânio em crianças com craniostenose sagital submetidas à correção cirúrgica / Anthropometric changes in the skull base in children with sagittal craniosynostosis submitted to surgical correction
Craniostenose é o fechamento precoce de uma ou mais suturas cranianas, levando ao redirecionamento do crescimento craniofacial e à deformidade do crânio. Estudos têm pesquisado o impacto da fusão da sutura sagital na base do crânio, focalizando a morfologia da base do crânio na presença de craniostenose sagital isolada (escafocefalia), enquanto outro
Publicado em: 2011
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2. Unknown syndrome: congenital heart disease, ptosis, hypodontia, and craniosynostosis.
We report a child with total anomalous pulmonary venous drainage, ptosis, hypoplastic teeth, sagittal craniosynostosis, and developmental delay, together with several unusual features.
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3. Pitfalls in counselling: the craniosynostoses.
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. In the third family, identical twins were initially thought to be discordant for sagittal craniosynostosis unti
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4. A family study of craniosynostosis, with probable recognition of a distinct syndrome.
A family study was based on 184 consecutive patients who had undergone surgery for craniosynostosis at The Hospital for Sick Children, London, between 1953 and 1976. Of these, 127 were traced and visited and are the probands for this study. Crouzon syndrome was recognised in 16, Apert in 11, Saethre-Chotzen in nine, and Pfeiffer in two. In addition, two prob
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5. Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis
It has been known for several years that heterozygous mutations of three members of the fibroblast growth-factor–receptor family of signal-transduction molecules—namely, FGFR1, FGFR2, and FGFR3—contribute significantly to disorders of bone patterning and growth. FGFR3 mutations, which predominantly cause short-limbed bone dysplasia, occur in all three
The American Society of Human Genetics.