Linked Life Data

964990

Source:http://linkedlifedata.com/resource/pubmed/id/964990

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1976-12-1
pubmed:abstractText
Sibs with apparent Dyggve-Melchior-Clausen (DMC) dwarfism and normal intelligence are described. Three other familial and 3 sporadic cases with DMC dwarfism and normal intelligence are known. Twelve familial and 9 sporadic cases are known with the usual combination of DMC dwarfism and severe mental retardation. Since the two conditions appear to breed true they seem to be genetically different. We propose to name the former "Smith-McCort dwarfism" to clearly distinguish it from the DMC syndrome in which mental retardation is a constituent part. Both conditions are inherited as autosomal recessive traits. Spinal cord compression due to atlantoaxial instability is a serious and preventable complication of both disorders.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:day
30
pubmed:volume
33
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
279-87
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1976
pubmed:articleTitle
Heterogeneity of Dyggve-Melchior-Clausen dwarfism.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports