Document Detail


Craniosynostosis: another feature of the 22q11.2 deletion syndrome.
MedLine Citation:
PMID:  16001439     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on the presence of craniosynostosis in four patients with the 22q11.2 deletion. In light of previous reports of the association, we propose that the occurrence is higher than the general population incidence. Therefore, we suggest that craniosynostosis should be considered a manifestation of the 22q11.2 deletion and conversely that the 22q11.2 deletion should be considered in the differential diagnosis of craniosynostosis.
Authors:
Donna M McDonald-McGinn; Karen W Gripp; Richard E Kirschner; Melissa K Maisenbacher; Virginia Hustead; Galen M Schauer; Kim M Keppler-Noreuil; Karen L Ciprero; Patrick Pasquariello; Don LaRossa; Scott P Bartlett; Linton A Whitaker; Elaine H Zackai
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  136A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2005 Aug 
Date Detail:
Created Date:  2005-07-26     Completed Date:  2005-08-22     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  358-62     Citation Subset:  IM    
Copyright Information:
(c) 2005 Wiley-Liss, Inc.
Affiliation:
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. mcginn@email.chop.edu
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MeSH Terms
Descriptor/Qualifier:
Chromosome Deletion*
Chromosomes, Human, Pair 22 / genetics*
Craniosynostoses / genetics*,  pathology
Fatal Outcome
Female
Humans
Infant
Infant, Newborn
Syndrome
Grant Support
ID/Acronym/Agency:
DC02027/DC/NIDCD NIH HHS; M01-RR00240/RR/NCRR NIH HHS

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