title: Apert syndrome: report of a case with emphasis on craniofacial and genetic features.
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 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.
authors.affiliation: Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.
authors.forename: Hercílio
authors.initials: H
authors.lastname: Martelli
authors.forename: Lívia Maris Ribeiro
authors.initials: LM
authors.lastname: Paranaíba
authors.forename: Roseli Teixeira
authors.initials: RT
authors.lastname: de Miranda
authors.forename: Julian
authors.initials: J
authors.lastname: Orsi
authors.forename: Ricardo D
authors.initials: RD
authors.lastname: Coletta
mesh_terms: D000168:Acrocephalosyndactylia / Q000150:complications* / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics*; D004245:DMF Index; D019066:Facies; D005260:Female; D006801:Humans; D010159:Palate / Q000002:abnormalities*; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2