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Apert syndrome: report of a case with emphasis on craniofacial and genetic features.
Martelli, Hercílio; Paranaíba, Lívia Maris Ribeiro; de Miranda, Roseli Teixeira; Orsi, Julian; Coletta, Ricardo D.
Afiliação
  • Martelli H; Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.
Pediatr Dent ; 30(6): 464-8, 2008.
Article em En | MEDLINE | ID: mdl-19186770
Apert syndrome is 1 of the 5 craniosynostosis syndromes that shore clinical features and are caused by allelic mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. The purpose of this paper was to report a case of Apert syndrome, with particular emphasis on craniofacial and genetic features, in a 5-year-old female patient. The patient presented with several craniofacial deformities, including severe brachycephaly, midface hypoplasio, flat forehead, proptosis, hypertelorism, and short nose with a bulbous tip. Syndactylies of the hands and feet were also observed. Intraoral findings included arched palate with pseudocleft in the midline, upper lip with symmetric depression resembling pseudoclefts, severe malocclusion, and several decoyed teeth. DNA sequence and restriction enzyme analysis showed a G to C transversion, resulting in a serine to tryptophan amino acid substitution at position 252 (S252W). Identification of the clinical features associated with mutation analysis is important to correctly diagnose Apert syndrome and distinguish it from other clinically similar craniosynostosis syndromes.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Palato / Acrocefalossindactilia / Anormalidades Craniofaciais / Receptor Tipo 2 de Fator de Crescimento de Fibroblastos Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans Idioma: En Revista: Pediatr Dent Ano de publicação: 2008 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Palato / Acrocefalossindactilia / Anormalidades Craniofaciais / Receptor Tipo 2 de Fator de Crescimento de Fibroblastos Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans Idioma: En Revista: Pediatr Dent Ano de publicação: 2008 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos