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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
|
pubmed:dateCreated |
1997-6-12
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pubmed:abstractText |
We present the findings of a "new" sublethal MCA syndrome in three siblings, one female and two boys, the only children of healthy, non-consanguineous parents. In addition to prenatal growth retardation and early demise, they presented the same pattern of multiple malformations: relative microcephaly with bird-headed face, microphthalmos/coloboma iris/cloudy corneae, genital anomalies with hypospadias and cryptorchidism in the two males. Associated anomalies included: cardiac defects (2/3), unilateral cleft lip/cleft palate (1/3), anal stenosis (2/3) and unilateral renal agenesis (1/3).
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pubmed:commentsCorrections | |
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 |
Mar
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pubmed:issn |
0009-9163
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
51
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
164-6
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:9137880-Abnormalities, Multiple,
pubmed-meshheading:9137880-Coloboma,
pubmed-meshheading:9137880-Female,
pubmed-meshheading:9137880-Fetal Growth Retardation,
pubmed-meshheading:9137880-Humans,
pubmed-meshheading:9137880-Infant, Newborn,
pubmed-meshheading:9137880-Male,
pubmed-meshheading:9137880-Microcephaly,
pubmed-meshheading:9137880-Microphthalmos,
pubmed-meshheading:9137880-Pregnancy,
pubmed-meshheading:9137880-Syndrome,
pubmed-meshheading:9137880-Urogenital Abnormalities
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pubmed:year |
1997
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pubmed:articleTitle |
Prenatal growth retardation, microphthalmos/iris coloboma, cloudy cornea, urogenital anomalies and microcephaly. A possible new sublethal syndrome.
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pubmed:affiliation |
Centre for Human Genetics, University of Leuven, Belgium.
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pubmed:publicationType |
Journal Article,
Case Reports
|