Linked Life Data

15717287

Source:http://linkedlifedata.com/resource/pubmed/id/15717287

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2005-4-4
pubmed:abstractText
Increased nuchal translucency thickness (NT) is an established sonographic marker of fetal chromosomal abnormality. Several structural fetal defects and genetic syndromes including a range of skeletal dysplasias have been reported in association with increased NT. We report the first case of fetal Ellis-Van Creveld syndrome presenting as raised fetal NT at 13 weeks' gestation. Ultrasonography at 18 weeks' gestation demonstrated a narrow thorax, marked shortening of the long bones with bowed femora and hexadactyly of hands and feet. Pregnancy was terminated at 23 weeks' gestation. The postmortem radiological examination revealed short and bowed long bones with rounded metaphyses, postaxial polydactyly of hands and feet, short ribs and narrow thorax. The acetabular roofs were horizontal with medial and lateral spurs. This case adds a further type of severe skeletal dysplasia to the list of genetic syndromes which may present as increased fetal NT in the late first trimester.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0960-7692
pubmed:author
pubmed:copyrightInfo
Copyright 2005 ISUOG
pubmed:issnType
Print
pubmed:volume
25
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
412-4
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Increased first-trimester fetal nuchal translucency thickness in association with chondroectodermal dysplasia (Ellis-Van Creveld syndrome).
pubmed:affiliation
Fetal Medicine Unit, St Mary's Hospital, Praed Street, London, UK.
pubmed:publicationType
Journal Article, Case Reports