Source:http://linkedlifedata.com/resource/pubmed/id/11244665
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
2001-3-13
|
| pubmed:abstractText |
Chondroectodermal dysplasia (Ellis-van Creveld syndrome) is an autosomal recessive condition characterized by short-limb dwarfism, postaxial polydactyly, ectodermal defects, and congenital heart disease. This condition is most prevalent in the Amish population of Lancaster, Pennsylvania, USA, occurring in 1/5000 births and in 1/60,000 births in the general population. This report presents a case of ultrasonographic detection of chondroectodermal dysplasia at 12 weeks of gestation.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jan
|
| pubmed:issn |
0960-7692
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
17
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
86-8
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:11244665-Adult,
pubmed-meshheading:11244665-Ellis-Van Creveld Syndrome,
pubmed-meshheading:11244665-Female,
pubmed-meshheading:11244665-Genes, Recessive,
pubmed-meshheading:11244665-Humans,
pubmed-meshheading:11244665-Pregnancy,
pubmed-meshheading:11244665-Pregnancy Trimester, First,
pubmed-meshheading:11244665-Ultrasonography, Prenatal
|
| pubmed:year |
2001
|
| pubmed:articleTitle |
First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound.
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| pubmed:affiliation |
Department of Obstetrics and Gynecology, University of Colorado Health Sciences Center, 4200 E. Ninth Ave., Campus Box B198, Denver, Colorado 80262, USA. Lorraine.Dugoff@uchsc.edu
|
| pubmed:publicationType |
Journal Article,
Case Reports
|