Source:http://linkedlifedata.com/resource/pubmed/id/16531731
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2006-3-13
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pubmed:abstractText |
We present two siblings from unrelated parents presenting with intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation (ectopic neuropituitary gland associated with a hypoplastic adenopituitary in one of them, and a hypoplastic cerebellum and vermis in the other), abnormal hair with temporal balding, a striking facial dysmorphism and, at least in the child who survived, postnatal growth retardation and severe developmental delay. This probably represents a novel syndrome.
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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 |
Apr
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pubmed:issn |
1473-5717
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
15
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
71-4
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pubmed:meshHeading |
pubmed-meshheading:16531731-Choristoma,
pubmed-meshheading:16531731-Face,
pubmed-meshheading:16531731-Fatal Outcome,
pubmed-meshheading:16531731-Female,
pubmed-meshheading:16531731-Fingers,
pubmed-meshheading:16531731-Hair,
pubmed-meshheading:16531731-Heart Defects, Congenital,
pubmed-meshheading:16531731-Humans,
pubmed-meshheading:16531731-Infant,
pubmed-meshheading:16531731-Infant, Newborn,
pubmed-meshheading:16531731-Magnetic Resonance Imaging,
pubmed-meshheading:16531731-Pituitary Gland,
pubmed-meshheading:16531731-Polydactyly,
pubmed-meshheading:16531731-Siblings,
pubmed-meshheading:16531731-Syndrome
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pubmed:year |
2006
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pubmed:articleTitle |
Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome?
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pubmed:affiliation |
Department of Pediatrics, University Hospital Ghent, Ghent, Belgium.
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pubmed:publicationType |
Journal Article,
Case Reports
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