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| Research article summary (published 30 Oct 2008): |
Apert syndrome: report of a case with emphasis on craniofacial and genetic features.
Full 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.
Author information
Author/s: Martelli, Hercílio (H); Paranaíba, Lívia Maris Ribeiro (LM); de Miranda, Roseli Teixeira (RT); Orsi, Julian (J); Coletta, Ricardo D (RD);
Affiliation: Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.
Journal and publication information
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal: Pediatric dentistry (Pediatr Dent), published in United States. (Language: eng)
Reference: -2008 Nov-Dec; vol 30 (issue 6) : pp 464-8
Dates: Created 2009/02/03; Completed 2009/04/28;
PMID: 19186770, status: MEDLINE (last retrieval date: 4/28/2009, IMS Date: 28 Apr 2009 00:00:00)
Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.
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