| pubmed-article:10463294 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10463294 | lifeskim:mentions | umls-concept:C1708480 | lld:lifeskim |
| pubmed-article:10463294 | lifeskim:mentions | umls-concept:C0927232 | lld:lifeskim |
| pubmed-article:10463294 | lifeskim:mentions | umls-concept:C0008928 | lld:lifeskim |
| pubmed-article:10463294 | lifeskim:mentions | umls-concept:C0751792 | lld:lifeskim |
| pubmed-article:10463294 | lifeskim:mentions | umls-concept:C0410916 | lld:lifeskim |
| pubmed-article:10463294 | lifeskim:mentions | umls-concept:C0678226 | lld:lifeskim |
| pubmed-article:10463294 | lifeskim:mentions | umls-concept:C0085973 | lld:lifeskim |
| pubmed-article:10463294 | lifeskim:mentions | umls-concept:C0007320 | lld:lifeskim |
| pubmed-article:10463294 | lifeskim:mentions | umls-concept:C0282441 | lld:lifeskim |
| pubmed-article:10463294 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:10463294 | pubmed:dateCreated | 1999-9-21 | lld:pubmed |
| pubmed-article:10463294 | pubmed:abstractText | Cleidocranial dysplasia (CCD), an uncommon disorder involving membranous bones, is rarely lethal in early life. The calvaria is defective and wormian bones are present. Abnormalities of the clavicles vary in severity from a minor unilateral defect to bilateral absence. This report concerns pre- and postmortem anatomical and radiological findings in a 15-day-old female neonate with CCD. Her postnatal course was characterized by seizures and recognition of hydrocephalus during the first day of life. The calvaria was hypoplastic with numerous wormian bones. A pseudofracture of the right clavicle was present. Hydrocephalus was present in the brachycephalic brain which had a severely thinned cerebral cortex. Hemosiderin in the ventricular lining and marked subependymal gliosis were interpreted as evidence of old intraventricular hemorrhage that had occurred in utero. A CCD-related condition, Yunis-Varon syndrome (YVS), is noted for early lethality and for developmental and secondary abnormalities of the central nervous system. The present case only partially matches the phenotype of YVS and might represent a part of a spectrum of phenotypic variants ranging from viable CCD to lethal YVS. | lld:pubmed |
| pubmed-article:10463294 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10463294 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10463294 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10463294 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10463294 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10463294 | pubmed:issn | 1093-5266 | lld:pubmed |
| pubmed-article:10463294 | pubmed:author | pubmed-author:WallaceHH | lld:pubmed |
| pubmed-article:10463294 | pubmed:author | pubmed-author:HornsteinAA | lld:pubmed |
| pubmed-article:10463294 | pubmed:author | pubmed-author:OyerC ECE | lld:pubmed |
| pubmed-article:10463294 | pubmed:author | pubmed-author:CortezS CSC | lld:pubmed |
| pubmed-article:10463294 | pubmed:author | pubmed-author:TatevosyantsN... | lld:pubmed |
| pubmed-article:10463294 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10463294 | pubmed:volume | 1 | lld:pubmed |
| pubmed-article:10463294 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10463294 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10463294 | pubmed:pagination | 314-8 | lld:pubmed |
| pubmed-article:10463294 | pubmed:dateRevised | 2006-5-8 | lld:pubmed |
| pubmed-article:10463294 | pubmed:meshHeading | pubmed-meshheading:10463294... | lld:pubmed |
| pubmed-article:10463294 | pubmed:meshHeading | pubmed-meshheading:10463294... | lld:pubmed |
| pubmed-article:10463294 | pubmed:meshHeading | pubmed-meshheading:10463294... | lld:pubmed |
| pubmed-article:10463294 | pubmed:meshHeading | pubmed-meshheading:10463294... | lld:pubmed |
| pubmed-article:10463294 | pubmed:meshHeading | pubmed-meshheading:10463294... | lld:pubmed |
| pubmed-article:10463294 | pubmed:meshHeading | pubmed-meshheading:10463294... | lld:pubmed |
| pubmed-article:10463294 | pubmed:meshHeading | pubmed-meshheading:10463294... | lld:pubmed |
| pubmed-article:10463294 | pubmed:meshHeading | pubmed-meshheading:10463294... | lld:pubmed |
| pubmed-article:10463294 | pubmed:meshHeading | pubmed-meshheading:10463294... | lld:pubmed |
| pubmed-article:10463294 | pubmed:meshHeading | pubmed-meshheading:10463294... | lld:pubmed |
| pubmed-article:10463294 | pubmed:articleTitle | Cleidocranial dysplasia with neonatal death due to central nervous system injury in utero: case report and literature review. | lld:pubmed |
| pubmed-article:10463294 | pubmed:affiliation | Department of Pathology, Brown University School of Medicine, Rhode Island Hospital, Women and Infants' Hospital, Providence 02905, USA. | lld:pubmed |
| pubmed-article:10463294 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10463294 | pubmed:publicationType | Review | lld:pubmed |
| pubmed-article:10463294 | pubmed:publicationType | Case Reports | lld:pubmed |
