Source:http://linkedlifedata.com/resource/pubmed/id/17497721
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
11
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pubmed:dateCreated |
2007-5-28
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pubmed:abstractText |
Nonsyndromic cleft lip+/-cleft palate is a complex disease with a wide phenotypic spectrum; occult defects of the superior orbicularis oris muscle may represent the mildest subclinical form of the lip portion of the phenotype. This study used high-resolution ultrasonography to compare the frequency of discontinuities in the OO muscle in 525 unaffected relatives of individuals with nonsyndromic cleft lip+/-cleft palate versus 257 unaffected controls. OO muscle discontinuities were observed in 54 (10.3%) of the non-cleft relatives, compared to 15 (5.8%) of the controls-a statistically significant increase (P=0.04). Male relatives had a significantly higher rate of discontinuities than male controls (12.0% vs. 3.2%; P=0.01); female relatives also had a higher rate of discontinuities than female controls, but the increase was not statistically significant (8.9% vs. 7.4%; P=0.56). These data confirm the hypothesis that subepithelial OO muscle defects are a mild manifestation of the cleft lip phenotype. Identification of subepithelial OO muscle defects may be important in a clinical setting, as a means of providing more accurate recurrence risk estimates to relatives in cleft families. Furthermore, the expansion of the cleft lip+/-cleft palate phenotypic spectrum should improve the power of genetic studies.
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pubmed:grant | |
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 |
Jun
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pubmed:issn |
1552-4825
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pubmed:author |
pubmed-author:BardiKathleen MKM,
pubmed-author:BowenA'DelbertA,
pubmed-author:BrandonCarla ACA,
pubmed-author:CooperMargaret EME,
pubmed-author:DeleyiannisFrederic W BFW,
pubmed-author:GonzálezBeatrizB,
pubmed-author:MaherBrion SBS,
pubmed-author:MarazitaMary LML,
pubmed-author:MartinRick ARA,
pubmed-author:MooneyMark PMP,
pubmed-author:NeiswangerKatherineK,
pubmed-author:ResickJudith MJM,
pubmed-author:RogersCarolyn RCR,
pubmed-author:WeinbergSeth MSM,
pubmed-author:de SalamancaJavier EnríquezJE
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pubmed:copyrightInfo |
Copyright (c) 2007 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:day |
1
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pubmed:volume |
143A
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1143-9
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pubmed:dateRevised |
2008-5-21
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pubmed:meshHeading | |
pubmed:year |
2007
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pubmed:articleTitle |
Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate.
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pubmed:affiliation |
Center for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, and Department of Pediatric Radiology, Children's Hospital of Pittsburgh, Pennsylvania 15219, USA.
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pubmed:publicationType |
Journal Article,
Research Support, N.I.H., Extramural
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