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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
1989-12-1
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pubmed:abstractText |
We report a 18 weeks old fetus with the typical limb reduction anomalies of SC phocomelia syndrome, associated with exencephaly and unilateral anophthalmia, a feature previously reported in only 2 cases of severe Roberts syndrome. This observation brings another argument for lumping both diseases in a unique Roberts-SC phocomelia syndrome. Diagnosis was settled by the observation of premature centromeric splitting.
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pubmed:language |
eng
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pubmed:journal |
|
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:issn |
0003-3995
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
32
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
169-70
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:2817778-Abnormalities, Multiple,
pubmed-meshheading:2817778-Brain,
pubmed-meshheading:2817778-Centromere,
pubmed-meshheading:2817778-Chromosomes,
pubmed-meshheading:2817778-Ectromelia,
pubmed-meshheading:2817778-Eye Abnormalities,
pubmed-meshheading:2817778-Female,
pubmed-meshheading:2817778-Fetal Diseases,
pubmed-meshheading:2817778-Humans,
pubmed-meshheading:2817778-Lung,
pubmed-meshheading:2817778-Male,
pubmed-meshheading:2817778-Pregnancy,
pubmed-meshheading:2817778-Prenatal Diagnosis,
pubmed-meshheading:2817778-Skull,
pubmed-meshheading:2817778-Syndrome
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pubmed:year |
1989
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|
pubmed:articleTitle |
Roberts-SC phocomelia syndrome with exencephaly.
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pubmed:affiliation |
Center for Human Genetics, Sart Tilman University Hospital, Liege State University, Belgium.
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pubmed:publicationType |
Journal Article,
Case Reports
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