Craniofacial Dysostosis
Mostrando 1-7 de 7 artigos, teses e dissertações.
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1. A linguagem na Síndrome de Treacher Collins: uma análise dialógica
RESUMO A Síndrome de Treacher Collins ou Disostose Mandibulofacial é decorrente de mutações genéticas e caracterizada por malformações craniofaciais. Crianças com essa síndrome podem apresentar dificuldades cognitivas, linguísticas e psicomotoras. São raras as publicações que discorrem sobre a complexidade de seus aspectos terapêuticos, especi
Audiol., Commun. Res.. Publicado em: 28/02/2019
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2. Evaluation of factors related to neuropsychological development and language acquisition in patients with Crouzon syndrome / Análise dos fatores relacionados ao desenvolvimento neuropsicológico e à aquisição de linguagem em pacientes com síndrome de Crouzon
Objective: To evaluate relevant factors to the neuropsychological development and language acquisition in patients with Crouzon syndrome. Model: Transversal study of patients with Crouzon syndrome diagnosed by clinical genetics examination, who underwent a multidisciplinary team assessment (craniofacial, socioeconomic, neuroradiological, neuropsychological a
Publicado em: 2008
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3. An Autosomal Recessive Form of Craniofacial Dysostosis (The Crouzon Syndrome)
Craniofacial dysostosis, the Crouzon syndrome, occurs sporadically and in families; the clearly heritable form up to now has been autosomal dominant. We ascertained two similarly affected sibs, a brother and a sister, in a sibship of nine. Neither the Negro parents nor any ancestors nor collateral relatives were similarly affected. The parents were not consa
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4. Cranio-facial Dysostosis and Malformations of Feet
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5. Radiographic profile of the first cervical vertebra.
Lateral cephalographs from 220 normal adolescent white orthodontic patients, and of individuals with craniofacial dysostosis and oculodento-osseous dysplasia were studied. Variations were observed in the morphology of the posterior margins of the superior articular processes, vertebral artery canals being present in 8%. Posterior arch dehiscence was found in
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6. Crouzon's craniofacial dysostosis in Kenya.
A 5-year-old child with Crouzon's disease presented with luxation of the eyeballs and advanced endophthalmitis as a result of which both the eyes had to be enucleated. This case led us to study the family pedigree. The factors influencing the pattern of clinical presentation, and hence the ultimate treatment of orbital disease, are discussed. The case is pre
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7. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region
Treacher Collins Syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. Recently, a partial TCOF1 cDNA was identified and shown to contain mutations in TCS families. Here we present the entire exon/intron genomic structure and the complete coding sequence of TCOF1. TCOF1 encodes a low complexity protein of 1,411 amino acids, who
The National Academy of Sciences of the USA.