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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
1995-11-9
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pubmed:abstractText |
We report on a 6-year-old girl with C-trigonocephaly syndrome and diaphragmatic hernia. She is severely mentally retarded and shows the characteristic findings of this syndrome, including trigonocephaly, unusual facial features, especially intra-oral anomalies, low set and dysplastic ears, cardiac anomaly and neonatal hypotonia. Following our presentation at the 5th European meeting of dysmorphology in Strasbourg, P. Meinecke brought to our attention a case of C-trigonocephaly who died in the neonatal period from complications of a diaphragmatic hernia. Another case of C-trigonocephaly without diaphragmatic hernia was communicated to us by D. Lacombe. We report these three observations and present a review of 26 alleged cases.
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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:issn |
1015-8146
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
6
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
113-20
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:7546453-Abnormalities, Multiple,
pubmed-meshheading:7546453-Child,
pubmed-meshheading:7546453-Facial Bones,
pubmed-meshheading:7546453-Female,
pubmed-meshheading:7546453-Genetic Counseling,
pubmed-meshheading:7546453-Hernia, Diaphragmatic,
pubmed-meshheading:7546453-Humans,
pubmed-meshheading:7546453-Infant,
pubmed-meshheading:7546453-Infant, Newborn,
pubmed-meshheading:7546453-Intellectual Disability,
pubmed-meshheading:7546453-Male,
pubmed-meshheading:7546453-Phenotype,
pubmed-meshheading:7546453-Risk Factors,
pubmed-meshheading:7546453-Skull,
pubmed-meshheading:7546453-Syndrome
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pubmed:year |
1995
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pubmed:articleTitle |
"C" trigonocephaly syndrome with diaphragmnatic hernia.
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pubmed:affiliation |
Division of Medical Genetics, CHUV, Lausanne, Switzerland.
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pubmed:publicationType |
Journal Article,
Case Reports
|