Linked Life Data

19938090

Source:http://linkedlifedata.com/resource/pubmed/id/19938090

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2009-11-30
pubmed:abstractText
In 1985, Mardini and Nyhan described three patients from consanguineous families with unilateral complete/partial lung agenesis, congenital cardiac defects, and ipsilateral thumb anomalies. Although there have been many reports of lung agenesis with other malformations, especially hemifacial microsomia and radial ray anomalies, very few demonstrate this triad of defects. We describe three patients with the Mardini-Nyhan association which may represent a distinct entity, although this remains uncertain at present. A fourth patient is also described, the sister of one of the other patients, with complex congenital cardiac disease and bilateral lung lobation abnormalities. This is the first reported incidence of a possible recurrence within a family and suggests, together with the consanguinity observed by Mardini and Nyhan, that recessive inheritance should be considered in genetic counseling for this disorder.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1552-4833
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
149A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2838-42
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Mardini-Nyhan association (lung agenesis, congenital heart, and thumb anomalies): three new cases and possible recurrence in a sib-is there a distinct recessive syndrome?
pubmed:affiliation
Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
pubmed:publicationType
Journal Article, Case Reports