Linked Life Data

8350593

Source:http://linkedlifedata.com/resource/pubmed/id/8350593

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1993-9-13
pubmed:abstractText
A now two years old girl had developed respiratory insufficiency shortly after birth requiring prolonged artificial ventilation. A hypo- and dysplasia of the right lung was identified as the underlying cause. Further diagnostic evaluation revealed a malformation of bones, i.e. shortness of the humerus, aplasia of the radius, shortness of the ulna and a congenital anlage of four metacarpal bones in fixed malposition. In addition, an atrial septal defect of the sinus venous type with left-to-right shunting was present. This, in combination with the sceletal abnormalities pointed to the diagnosis of Holt-Oram syndrome. In her first year of life the patient also developed a hypertrophic non-obstructive cardiomyopathy. Cytogenetic analysis of her family revealed a reciporke translocation between chromosome 1 and 11 (t -1, -11 (1p13, 11q13)) in the patient herself, her father and the father and a sister of her father. However, this finding as well as the hypertrophic cardiomyopathy has to be regarded as being independent from Holt-Oram syndrome.
pubmed:commentsCorrections
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0300-8630
pubmed:author
pubmed:issnType
Print
pubmed:volume
205
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
185-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
[Holt-Oram syndrome in combination with reciprocal translocation, lung hypoplasia and cardiomyopathy].
pubmed:affiliation
Klinik und Poliklinik für Innere Medizin I, Universität Regensburg.
pubmed:publicationType
Journal Article, English Abstract, Case Reports