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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
|
| pubmed:dateCreated |
1975-11-8
|
| pubmed:abstractText |
Rud's syndrome is a neuroichthyosis with hypogonadism, associated with mental deficiency and epilepsy. Short stature is a frequent component of the syndrome. The primary genetic defect and the pattern of inheritance have not yet been determined. A typical patient is presented, with mental deficiency, short stature, pypoacusia, muscular atrophy, tylosis, pseudoacanthosis nigricans and endocrine disturbances. The neuroichthyosis with hypogonadism must be considered Rud's syndrome. A classification of neuroichthyosis is proposed. In a first group is neuroichthyosis with hypogonadism, in the second group is neuroichthyosis with spasticity and in the third group, neuroichthyosis without hypogonadism or spasticity.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
0011-9059
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
14
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
347-52
|
| pubmed:dateRevised |
2011-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:50299-Adolescent,
pubmed-meshheading:50299-Adult,
pubmed-meshheading:50299-Child,
pubmed-meshheading:50299-Diagnosis, Differential,
pubmed-meshheading:50299-Epilepsy,
pubmed-meshheading:50299-Female,
pubmed-meshheading:50299-Humans,
pubmed-meshheading:50299-Hypogonadism,
pubmed-meshheading:50299-Ichthyosis,
pubmed-meshheading:50299-Intellectual Disability,
pubmed-meshheading:50299-Male,
pubmed-meshheading:50299-Muscular Atrophy,
pubmed-meshheading:50299-Refsum Disease,
pubmed-meshheading:50299-Somatotypes,
pubmed-meshheading:50299-Syndrome
|
| pubmed:year |
1975
|
| pubmed:articleTitle |
Neuroichthyosis with hypogonadism (Rud's syndrome).
|
| pubmed:publicationType |
Journal Article
|