10842295

Source:http://linkedlifedata.com/resource/pubmed/id/10842295

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C1533148, umls-concept:C1862178
pubmed:issue	4
pubmed:dateCreated	2000-7-12
pubmed:abstractText	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.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7708900
pubmed:citationSubset	IM
pubmed:status	MEDLINE
pubmed:month	Jun
pubmed:issn	0148-7299
pubmed:author	pubmed-author:AmosD MDM, pubmed-author:BankierAA, pubmed-author:SavarirayanRR, pubmed-author:SchneiderA SAS
pubmed:issnType	Print
pubmed:day	5
pubmed:volume	92
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	273-7
pubmed:dateRevised	2005-11-16
pubmed:meshHeading	pubmed-meshheading:10842295-Craniofacial Abnormalities, pubmed-meshheading:10842295-Craniosynostoses, pubmed-meshheading:10842295-Eye Abnormalities, pubmed-meshheading:10842295-Female, pubmed-meshheading:10842295-Growth Disorders, pubmed-meshheading:10842295-Humans, pubmed-meshheading:10842295-Infant, pubmed-meshheading:10842295-Infant, Newborn, pubmed-meshheading:10842295-Osteogenesis Imperfecta, pubmed-meshheading:10842295-Syndrome
pubmed:year	2000
pubmed:articleTitle	New case of Cole-Carpenter syndrome.
pubmed:affiliation	Victorian Clinical Genetics Service, Royal Children's Hospital, Australia. amord@cryptic.rch.unimelb.edu.au
pubmed:publicationType	Journal Article, Review, Case Reports