Linked Life Data

1204988

Source:http://linkedlifedata.com/resource/pubmed/id/1204988

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1976-4-2
pubmed:abstractText
Three children, two girls and one boy, are described as suffering from a new syndrome, 'cerebro-facio-thoracic dysplasia'. The characteristic findings are mental retardation, characteristic facies, narrow forehead, bushy eyebrows with synophrys, hypertelorism, broad nose, wide philtrum, triangular-shaped mouth, short neck, marked maxillary hypoplasia, a low hairline (especially posteriorly in the midline on the neck), brachycephaly, calcified clinoid ligements, and multiple bony abnormalities in the upper thoracic vertebrae and sometimes in the cervical region, together with a variety of deformities of the upper ribs. It seems possible that the condition is hereditary and that it may be inherited as a result of an autosomal recessive trait.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0012-1622
pubmed:author
pubmed:issnType
Print
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
343-51
pubmed:dateRevised
2009-11-11
pubmed:meshHeading
pubmed:year
1975
pubmed:articleTitle
Cerebro-facio-thoracic dysplasia: report of three cases.
pubmed:publicationType
Journal Article, Case Reports