Syndromic Craniosynostosis
Mostrando 1-11 de 11 artigos, teses e dissertações.
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1. Anterior fontanelle closure and diagnosis of non-syndromic craniosynostosis: a comparative study using computed tomography
Abstract Objective: Suspicion of early anterior fontanel (AF) closure is a common reason for referral to a pediatric neurosurgeon because of the suspected increased risk of developing craniosynostosis (CS) in spite of the absence of evidence in the literature. The aim of this study was to analyze the association between AF closure and the diagnosis of non-s
Jornal de Pediatria. Publicado em: 2022
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2. Gene expression and cell behavior study in cells from individuals with syndromic craniosynostosis / Estudo de expressão gênica e de comportamento celular em células de indivíduos portadores de craniossinostoses sindrômicas
Um dos grupos de doenças mais importante que acomete o desenvolvimento da caixa craniana humana é o das craniossinostoses, caracterizado pelo fechamento prematuro de uma ou mais suturas cranianas. Entre as formas mendelianas das craniossinostoses sindrômicas, mutações dominantes em FGFR2 são uma das causas mais frequentes e estão associadas às síndr
Publicado em: 2010
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3. Comparison of periodontal parameters in individuals with syndromic craniosynostosis
Craniosynostosis syndromes are characterized by premature closure of one or more cranial sutures, associated with other malformations, the most frequent of which are the Crouzon and Apert syndromes. Few studies in the literature have addressed the oral health of these individuals. The purpose of this study was to compare the periodontal status of individuals
Journal of Applied Oral Science. Publicado em: 2009-02
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4. Estudos moleculares de craniossinostoses com enfase na mutação Q289P do gene FGFR2 / Molecular of craniosynostosis and the mutation Q289P in the FGFR2 gene
The FGFRs family is involved in the molecular pathway which plays a role in modulation of the craniofacial and members development in humans. Mutations in genes FGFR1, FGFR2 and FGFR3 have been associated to different phenotypes presenting craniosynostosis and other bone diseases. The FGFR2 gene codifies a fibroblast growth factor receptor. The mutation Q289
Publicado em: 2008
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5. Evaluation of cephalometric points in the midface bone lengthening with the use of rigid external device in syndromic craniosynostosis patients / Avaliação de pontos cefalométricos no alongamento ósseo do terço médio da face com a utilização de dispositivo externo rígido em portadores craniossinostose sindrômica
A distração osteogênica tem sido extensamente empregada na correção da grave hipoplasia do terço médio da face de portadores de craniossinostose sindrômica. Contudo, poucos estudos têm apresentado os resultados da distração do terço médio da face através de avaliação cefalométrica. O objetivo do presente estudo foi o de avaliar os resultados
Publicado em: 2008
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6. Estudo de craniossinostoses por meio de investigação de regiões genomicas especificas
Craniosynostosis refers to the premature fusion of one or more of the cranial sutures, affecting about 0,4-1/1000 newborns. More than 100 distinct genetic syndromes with craniosynostosis have been described. Most of them exhibit autosomal dominant transmission and variable expressivity. Clinical diagnostic is also ofien difficulted by the overlapping feature
Publicado em: 2005
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7. "Condições bucais de pacientes com craniossinostoses múltiplas sindrômicas e síndrome de Treacher Collins." / "Oral health status of patients with syndromic craniosynostosis and Treacher Collins syndrome."
Two groups of patients were evaluated in an attempt to achieve more information on the oral health status, association with cleft lip and palate, soft tissue alterations and prevalence of dental anomalies in patients with craniofacial syndromes. One group comprised 19 patients with craniosynostosis syndromes (Apert, Crouzon, Pfeiffer and Saethre-Chotzen synd
Publicado em: 2004
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8. 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.
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9. Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.
The craniosynostosis syndromes are a heterogeneous group of sporadic, autosomal dominant disorders with significant clinical overlap. Recently, we described a large family with autosomal dominant craniosynostosis suggestive of Saethre-Chotzen syndrome, in which linkage to the Saethre-Chotzen syndrome loci on 7p had been excluded. We now report the presence o
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10. 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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11. Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome.
Apert syndrome, associated with fibroblast growth factor receptor (FGFR) 2 mutations, is characterized by premature fusion of cranial sutures. We analyzed proliferation and differentiation of calvaria cells derived from Apert infants and fetuses with FGFR-2 mutations. Histological analysis revealed premature ossification, increased extent of subperiosteal bo