|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0000325,
umls-concept:C0026351,
umls-concept:C0027720,
umls-concept:C0039082,
umls-concept:C0149566,
umls-concept:C0220697,
umls-concept:C0687696,
umls-concept:C0848558,
umls-concept:C1123023,
umls-concept:C1513374,
umls-concept:C1522446,
umls-concept:C1883547,
umls-concept:C1947916,
umls-concept:C2750866
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|
pubmed:issue |
4
|
|
pubmed:dateCreated |
1999-2-8
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|
pubmed:abstractText |
We report a moderately mentally retarded 7-year-old male with a unique combination of clinical symptoms and signs: severe pre- and postnatal growth retardation, scaling skin and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly type B on the right hand. Normal fibroblast enzyme activities of fatty aldehyde dehydrogenase and NADPH cytochrome C reductase were not consistent with the diagnosis of Sjögren-Larsson syndrome. The nosology of 'bird-headed' dwarfism is briefly discussed.
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pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
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pubmed:status |
MEDLINE
|
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pubmed:month |
Oct
|
|
pubmed:issn |
0962-8827
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pubmed:author |
|
|
pubmed:issnType |
Print
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|
pubmed:volume |
7
|
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pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
275-7
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|
pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:9823494-Abnormalities, Multiple,
pubmed-meshheading:9823494-Child,
pubmed-meshheading:9823494-Diagnosis, Differential,
pubmed-meshheading:9823494-Dwarfism,
pubmed-meshheading:9823494-Fetal Growth Retardation,
pubmed-meshheading:9823494-Growth Disorders,
pubmed-meshheading:9823494-Humans,
pubmed-meshheading:9823494-Hydronephrosis,
pubmed-meshheading:9823494-Hypospadias,
pubmed-meshheading:9823494-Intellectual Disability,
pubmed-meshheading:9823494-Male,
pubmed-meshheading:9823494-Muscle Spasticity,
pubmed-meshheading:9823494-Polydactyly,
pubmed-meshheading:9823494-Sjogren-Larsson Syndrome,
pubmed-meshheading:9823494-Skin Diseases,
pubmed-meshheading:9823494-Syndrome
|
|
pubmed:year |
1998
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|
pubmed:articleTitle |
Pre- and postnatal growth retardation, scaling skin, moderate mental retardation and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly. A distinct MCA/MR syndrome?
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|
pubmed:affiliation |
Centre for Human Genetics, University Hospital Gasthuisberg, University of Leuven, Belgium.
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pubmed:publicationType |
Journal Article,
Case Reports
|
