Linked Life Data

1915520

Source:http://linkedlifedata.com/resource/pubmed/id/1915520

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
1991-10-29
pubmed:abstractText
Five males are reported with severe X-linked arthrogryposis. Main findings are marked respiratory insufficiency and feeding problems, multiple contractures, deformities of chest and vertebral column, and typical facies. Most of these findings can be explained by a pronounced prenatal and postnatal muscle weakness. The sole living child has severe psychomotor retardation. Several female carriers show mild features (clubfeet, contractures, hyperkyphosis, and slight muscle weakness). One manifesting carrier is affected more severely (multiple contractures, mental retardation, and various dysmorphic features). Additional investigations including muscle biopsy revealed none of the usual signs of denervation, and pointed to the presence of a degenerative muscle disorder.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0340-6199
pubmed:author
pubmed:issnType
Print
pubmed:volume
150
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
656-60
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
A family with severe X-linked arthrogryposis.
pubmed:affiliation
Clinical Genetics Centre Utrecht, The Netherlands.
pubmed:publicationType
Journal Article, Review, Case Reports