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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1982-12-16
|
| pubmed:abstractText |
A 66 years old man with cleido-cranial dysostosis suffered from a progressive ataxic gait for 45 years. Physical examination discovered cerebellar and pyramidal signs and altered deep sensibility in lower limbs. Roentgenograms showed skeletal dysostosis and a severe malformation of the cervico-occipital junction. The disease was transmitted with a dominant autosomic inheritance. The patient died from cardiac and respiratory distress. Post mortem examination confirmed radiologic anomalies: basilar invagination with a low-situated brain stem. The paucity of neurological complications of cleido-cranial dysostosis is emphasized. This is apparently the first reported case with clinical signs of cervico-occipital malformation.
|
| pubmed:language |
fre
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0035-3787
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
138
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
327-36
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading | |
| pubmed:year |
1982
|
| pubmed:articleTitle |
[Cleido-cranial dysostosis with malformation of the cervico-occipital junction].
|
| pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
|