Document Detail

Apert syndrome: report of a case with emphasis on craniofacial and genetic features.
MedLine Citation:
PMID:  19186770     Owner:  NLM     Status:  MEDLINE    
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.
Hercílio Martelli; Lívia Maris Ribeiro Paranaíba; Roseli Teixeira de Miranda; Julian Orsi; Ricardo D Coletta
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric dentistry     Volume:  30     ISSN:  0164-1263     ISO Abbreviation:  Pediatr Dent     Publication Date:    2008 Nov-Dec
Date Detail:
Created Date:  2009-02-03     Completed Date:  2009-04-28     Revised Date:  2012-06-05    
Medline Journal Info:
Nlm Unique ID:  7909102     Medline TA:  Pediatr Dent     Country:  United States    
Other Details:
Languages:  eng     Pagination:  464-8     Citation Subset:  D; IM    
Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.
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MeSH Terms
Acrocephalosyndactylia / complications*,  genetics
Amino Acid Substitution / genetics
Child, Preschool
Craniofacial Abnormalities / complications,  genetics*
DMF Index
Palate / abnormalities*
Receptor, Fibroblast Growth Factor, Type 2 / genetics*
Reg. No./Substance:
EC protein, human; EC, Fibroblast Growth Factor, Type 2

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