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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
1978-6-12
|
| pubmed:abstractText |
Acrodysostosis--a rare congenital malformation syndrome--is described in a 4 1/2 year old boy with peripheral dysostosis, nasal hypoplasia, mental retardation (PNM syndrome) and impaired hearing. The differential diagnosis includes pseudo (PH)--and pseudo-pseudohypoparathyroidism (PPH). The patient described here had severe peripheral dysostosis, typical of PNM as opposed to the above-mentioned conditions with only moderate peripheral dysostosis. Furthermore, there were no soft tissue calcifications and no intracranial calcification as can be seen in PH and PPH. Laboratory findings were normal.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
0301-0449
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
10
|
| pubmed:volume |
7
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
53-5
|
| pubmed:dateRevised |
2011-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:643365-Bone Diseases, Developmental,
pubmed-meshheading:643365-Child, Preschool,
pubmed-meshheading:643365-Hearing Disorders,
pubmed-meshheading:643365-Humans,
pubmed-meshheading:643365-Intellectual Disability,
pubmed-meshheading:643365-Male,
pubmed-meshheading:643365-Nose,
pubmed-meshheading:643365-Syndrome
|
| pubmed:year |
1978
|
| pubmed:articleTitle |
Acrodysostosis. A case of peripheral dysostosis, nasal hypoplasia, mental retardation and impaired hearing.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|