Document Detail


Ehlers-Danlos type VIII, periodontitis-type: Further delineation of the syndrome in a four-generation pedigree.
MedLine Citation:
PMID:  21594996     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
The periodontitis type of Ehlers-Danlos syndrome (EDS type VIII) is distinguished from other subtypes of EDS by severe periodontitis leading to premature loss of permanent teeth. A limited number of patients and pedigrees with this condition have been described. We report a four-generation EDS VIII kindred with a phenotype of joint hypermobility, normal scar formation but eventual scar atrophy, and severe periodontal disease. Similar to other subtypes of EDS, the age of onset and severity of symptoms were variable amongst affected individuals, confirming the presence of intra-familial variability in this subtype. This pedigree is not linked to the previously reported region, confirming genetic locus heterogeneity in EDS type VIII. © 2011 Wiley-Liss, Inc.
Authors:
Eyal Reinstein; Raymond Y Wang; Ling Zhan; David L Rimoin; William R Wilcox
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Publication Detail:
Type:  Journal Article     Date:  2011-03-15
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  155     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-05-19     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  742-7     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Wiley-Liss, Inc.
Affiliation:
Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California.
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