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Apert syndrome: report of a case with emphasis on craniofacial and genetic features.
Pediatr Dent. 2008 Nov-Dec; 30(6):464-8.PD

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+Show Affiliations

Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19186770

Citation

Martelli, Hercílio, et al. "Apert Syndrome: Report of a Case With Emphasis On Craniofacial and Genetic Features." Pediatric Dentistry, vol. 30, no. 6, 2008, pp. 464-8.
Martelli H, Paranaíba LM, de Miranda RT, et al. Apert syndrome: report of a case with emphasis on craniofacial and genetic features. Pediatr Dent. 2008;30(6):464-8.
Martelli, H., Paranaíba, L. M., de Miranda, R. T., Orsi, J., & Coletta, R. D. (2008). Apert syndrome: report of a case with emphasis on craniofacial and genetic features. Pediatric Dentistry, 30(6), 464-8.
Martelli H, et al. Apert Syndrome: Report of a Case With Emphasis On Craniofacial and Genetic Features. Pediatr Dent. 2008 Nov-Dec;30(6):464-8. PubMed PMID: 19186770.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Apert syndrome: report of a case with emphasis on craniofacial and genetic features. AU - Martelli,Hercílio,Jr AU - Paranaíba,Lívia Maris Ribeiro, AU - de Miranda,Roseli Teixeira, AU - Orsi,Julian,Jr AU - Coletta,Ricardo D, PY - 2009/2/4/entrez PY - 2009/2/4/pubmed PY - 2009/4/29/medline SP - 464 EP - 8 JF - Pediatric dentistry JO - Pediatr Dent VL - 30 IS - 6 N2 - 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. SN - 0164-1263 UR - https://www.unboundmedicine.com/medline/citation/19186770/Apert_syndrome:_report_of_a_case_with_emphasis_on_craniofacial_and_genetic_features_ L2 - https://www.ingentaconnect.com/openurl?genre=article&issn=0164-1263&volume=30&issue=6&spage=464&aulast=Martelli H DB - PRIME DP - Unbound Medicine ER -