Linked Life Data

786514

Source:http://linkedlifedata.com/resource/pubmed/id/786514

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1976-12-1
pubmed:abstractText
A family is described with the following features: 1) Two propositi, a male and a female, with congenital absence of gluteal muscles and with spina bifida occulta. 2) Both parents and two apparently normal siblings with sacral spina bifida occulta. 3) Two siblings of the propositi who died soon after birth, one with anencephaly and the other with a probable spina bifida. Two alternative hypotheses for the etiology of these malformations are suggested: first, the muscular defect could be caused by an autosomal recessive gene independent of the open neural-tube defects; second, both types of malformations could be due to the same autosomal recessive gene. Then compensatory muscular changes which allow the propositi to walk are discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
135-8
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1976
pubmed:articleTitle
Congenital absence of gluteal muscles. Report of two sibs.
pubmed:publicationType
Journal Article, Case Reports