Document Detail


Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromes.
MedLine Citation:
PMID:  19860525     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The authors report a new case of Beare-Stevenson syndrome (BSS) characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, ear defects, a prominent umbilical stump, and midface hypoplasia. The patient had dental findings of natal teeth and hypodontia of the primary and permanent teeth. This is the second patient with BSS syndrome to be reported with hypodontia and natal teeth; the first patient was described by Beare in 1969. The authors review the current literature to investigate the relationship between dental anomalies and fibroblast growth factor receptor-related mutations in BSS and other craniosynostosis syndromes such as Apert, Crouzon, and Pfeiffer.
Authors:
You-Chen Tao; Anne M Slavotinek; Karin Vargervik; Snehlata Oberoi
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association     Volume:  47     ISSN:  1545-1569     ISO Abbreviation:  Cleft Palate Craniofac. J.     Publication Date:  2010 May 
Date Detail:
Created Date:  2010-04-30     Completed Date:  2010-12-23     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9102566     Medline TA:  Cleft Palate Craniofac J     Country:  United States    
Other Details:
Languages:  eng     Pagination:  253-8     Citation Subset:  D; IM    
Affiliation:
UCSF School of Dentistry, San Francisco, California, USA.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Acanthosis Nigricans / genetics*
Anodontia / genetics*
Craniofacial Abnormalities / genetics*
Craniosynostoses / genetics*
Humans
Receptors, Fibroblast Growth Factor / genetics*
Syndrome
Chemical
Reg. No./Substance:
0/Receptors, Fibroblast Growth Factor

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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