|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
1988-8-11
|
|
pubmed:abstractText |
The review of 80 unpublished cases of hypochondroplasia revealed the difficulty of the diagnosis. A careful clinical and radiological study is necessary. The diagnosis is especially difficult if the spine is normal. Hypochondroplasia is also close to minor forms of achondroplasia. The transmission is autosomal dominant and the paternal age is increased like in the achondroplasia.
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|
pubmed:language |
fre
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Feb
|
|
pubmed:issn |
0003-9764
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
45
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
105-9
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
pubmed-meshheading:3389972-Achondroplasia,
pubmed-meshheading:3389972-Adolescent,
pubmed-meshheading:3389972-Child,
pubmed-meshheading:3389972-Child, Preschool,
pubmed-meshheading:3389972-Female,
pubmed-meshheading:3389972-Genes, Dominant,
pubmed-meshheading:3389972-Growth Disorders,
pubmed-meshheading:3389972-Growth Plate,
pubmed-meshheading:3389972-Humans,
pubmed-meshheading:3389972-Infant,
pubmed-meshheading:3389972-Male,
pubmed-meshheading:3389972-Spine
|
|
pubmed:year |
1988
|
|
pubmed:articleTitle |
[Hypochondroplasia. Review of 80 cases].
|
|
pubmed:affiliation |
l'Unité de Recherches de Génétique Médicale, INSERUM U 12 et CNRS UA 584, Hôpital des Enfants-Malades, Paris.
|
|
pubmed:publicationType |
Journal Article,
English Abstract
|
