Linked Life Data

18075831

Source:http://linkedlifedata.com/resource/pubmed/id/18075831

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2007-12-13
pubmed:abstractText
The combination of bilateral brachial amelia, facial clefting, and holoprosencephaly is rare. To our knowledge, only 4 patients with this combination of malformations have been described so far. We report on a male fetus with bilateral brachial amelia, complex facial clefts, frontal craniosynostosis and hypoplasia, thoracic kyphoscoliosis, and holoprosencephaly. In addition, an interrupted aortic arch, a muscular ventricular septal defect, and localized noncompaction of the septal myocardium were present. Although fibroblast culture was not successful, fluorescent in situ hybridization of paraffin-embedded tissue showed a normal set of chromosomes 13, 18, 21, X and Y. Our observation supports the hypothesis that this malformation combination may constitute a distinct entity. However, so far, a genetic defect remains to be identified.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1551-3815
pubmed:author
pubmed:issnType
Print
pubmed:volume
26
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
169-76
pubmed:dateRevised
2008-10-1
pubmed:meshHeading
pubmed:articleTitle
Upper limb amelia, facial clefts, holoprosencephaly, and interrupted aortic arch.
pubmed:affiliation
Institute of Pathology, Basel University Hospital, Switzerland.
pubmed:publicationType
Journal Article