Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/78020
Type: Artigo de periódico
Title: Apert Syndrome: Report of a Case With Emphasis on Craniofacial and Genetic Features
Author: Martelli, H
Paranaiba, LMR
de Miranda, RT
Orsi, J
Coletta, RD
Abstract: 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 hypoplasia, 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 decayed 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. (Pediatr Dent 2008;30:454-8) Received October 29, 2007 vertical bar Last Revision January 9, 2008 vertical bar Revision Accepted January 30, 2008
Subject: APERT SYNDROME
CRANIOSYNOSTOSIS
FIBROBLAST GROWTH FACTOR RECEPTOR 2 GENE
Country: EUA
Editor: Amer Acad Pediatric Dentistry
Citation: Pediatric Dentistry. Amer Acad Pediatric Dentistry, v. 30, n. 6, n. 464, n. 468, 2008.
Rights: fechado
Date Issue: 2008
Appears in Collections:Unicamp - Artigos e Outros Documentos

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