Document Detail

New case of Cole-Carpenter syndrome.
MedLine Citation:
PMID:  10842295     Owner:  NLM     Status:  MEDLINE    
We describe a girl with a severe progressive type of osteogenesis imperfecta, in association with multisutural craniosynostosis, growth failure, and craniofacial findings including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia. Collagen analysis was normal. These features are consistent with the diagnosis of Cole-Carpenter syndrome. This report provides further evidence for the existence of this rare genetic entity.
D J Amor; R Savarirayan; A S Schneider; A Bankier
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  92     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2000 Jun 
Date Detail:
Created Date:  2000-07-12     Completed Date:  2000-07-12     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  273-7     Citation Subset:  IM    
Victorian Clinical Genetics Service, Royal Children's Hospital, Australia.
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MeSH Terms
Craniofacial Abnormalities / pathology,  radiography
Craniosynostoses / pathology,  radiography
Eye Abnormalities
Growth Disorders / congenital
Infant, Newborn
Osteogenesis Imperfecta / congenital,  pathology*,  radiography

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

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