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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:dateCreated |
1984-6-7
|
| pubmed:abstractText |
This paper relates two cases of a complex syndrome with unusual facies, restricted articular movements and accelerated skeletal maturation (already present at birth) in two siblings (brother and sister). These infants died in early age: one was ten days, the other six weeks old. Clinical and radiological findings of these newborns are part of both the Marshall-Smith and the Weaver syndrome, suggesting that these syndromes are one entity. The observation of affected siblings from unaffected parents favors autosomal recessive inheritance.
|
| pubmed:language |
fre
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Dec
|
| pubmed:issn |
0021-7743
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
31 Suppl 5
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
385-95
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:6674414-Abnormalities, Multiple,
pubmed-meshheading:6674414-Bone Development,
pubmed-meshheading:6674414-Facial Bones,
pubmed-meshheading:6674414-Female,
pubmed-meshheading:6674414-Growth Disorders,
pubmed-meshheading:6674414-Humans,
pubmed-meshheading:6674414-Infant,
pubmed-meshheading:6674414-Infant, Newborn,
pubmed-meshheading:6674414-Male,
pubmed-meshheading:6674414-Pedigree,
pubmed-meshheading:6674414-Skull,
pubmed-meshheading:6674414-Syndrome
|
| pubmed:year |
1983
|
| pubmed:articleTitle |
[Acceleration of bone maturation and dysmorphic syndrome in 2 siblings (Marshall-Weaver syndrome)].
|
| pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
|