Navegando por Palavras-chave "Treacher Collins syndrome"

Agora exibindo 1 - 2 de 2
  • Nenhuma Miniatura disponível
    Item
    Somente Metadadados
    High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes
    (Wiley-Blackwell, 2000-01-01) Splendore, A.; Silva, E. O.; Alonso, L. G.; Richieri-Costa, A.; Alonso, N.; Rosa, A.; Carakushanky, G.; Cavalcanti, D. P.; Brunoni, D.; Passos-Bueno, M. R.; Universidade de São Paulo (USP); Inst Materno Infantil Pernambuco; Universidade Federal de São Paulo (UNIFESP); Hosp Reabil Lesoes Labio Palatinas; Inst Invest Med Mercedes & Martin Ferreyra; Universidade Federal do Rio de Janeiro (UFRJ); Universidade Estadual de Campinas (UNICAMP)
    Twenty-eight families with a clinical diagnosis of Treacher Collins syndrome were screened for mutations in the 25 coding exons of TCOF1 and their adjacent splice junctions through SSCP and direct sequencing. Pathogenic mutations were detected in 26 patients, yielding the highest detection rate reported so far for this disease (93%) and bringing the number of known disease-causing mutations from 35 to 51. This is the first report to describe clustering of pathogenic mutations. Thirteen novel polymorphic alterations were characterized, confirming previous reports that TCOF1 has an unusually high rate of single-nucleotide polymorphisms (SNPs) within its coding region. We suggest a possible different mechanism leading to TCS or genetic heterogeneity for this condition, as we identified two families with no apparent pathogenic mutation in the gene. Furthermore, our data confirm the absence of genotype-phenotype correlation and reinforce that the apparent anticipation often observed in TCS families is due to ascertainment bias. Hum Mutat 16:315-322, 2000. (C) 2000 Wiley-Liss, Inc.
  • Nenhuma Miniatura disponível
    Item
    Somente Metadadados
    Radiological findings and dynamic aspects of stomatognathic structures in Treacher Collins syndrome: Clinical case report
    (Alliance Communications Group Division Allen Press, 2007-11-01) Ortega, Adriana de Oliveira Lira [UNIFESP]; Zwir, Liete Maria Liarte Figueiredo [UNIFESP]; Ciamponi, Ana Lidia; Guimaraes, Antonio Sergio [UNIFESP]; Alonso, Luis Garcia [UNIFESP]; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP)
    Treacher Collins syndrome usually affects bilateral and symmetric structures that include the orbits, mandible, and ears. the purpose of this report is to describe a clinical case of the syndrome, focusing on the anatomy of the temporomandibular joint, which was assessed using the computed tomography method. Clinical examination included evaluation of mandibular dynamics, investigation of temporomandibular dysfunction, and measurement of bite force. Significant morphological and functional alterations were observed but without significant documented clinical consequences.