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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
|
pubmed:dateCreated |
1995-5-25
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pubmed:abstractText |
We describe a boy with an apparently unique constellation of anomalies, including macrocephaly, short stature, relatively short limbs, hearing loss, developmental delay, sparse anterior scalp hair, hypertelorism, downslanting palpebral fissures, and a short nose with a broad, flat nasal bridge and anteverted nares. Chromosomes were normal and radiographs failed to show a bone dysplasia. We conclude that this represents a new syndrome.
|
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0148-7299
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:day |
30
|
pubmed:volume |
55
|
pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
367-71
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:7537019-Abnormalities, Multiple,
pubmed-meshheading:7537019-Developmental Disabilities,
pubmed-meshheading:7537019-Hearing Loss, Bilateral,
pubmed-meshheading:7537019-Humans,
pubmed-meshheading:7537019-Hypertelorism,
pubmed-meshheading:7537019-Infant, Newborn,
pubmed-meshheading:7537019-Limb Deformities, Congenital,
pubmed-meshheading:7537019-Male,
pubmed-meshheading:7537019-Skull,
pubmed-meshheading:7537019-Syndrome
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pubmed:year |
1995
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pubmed:articleTitle |
New syndrome of macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay.
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pubmed:affiliation |
Department of Pediatrics, University of Arizona College of Medicine, Tucson, USA.
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pubmed:publicationType |
Journal Article,
Case Reports
|