Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate

Authors

  • Katherine Neiswanger,

    1. Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania
    2. Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania
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  • Seth M. Weinberg,

    1. Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania
    2. Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania
    3. Department of Anthropology, University of Pittsburgh, Pittsburgh, Pennsylvania
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  • Carolyn R. Rogers,

    1. Department of Surgery, Division of Plastic and Reconstructive Surgery, University of Pittsburgh, Pittsburgh, Pennsylvania
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  • Carla A. Brandon,

    1. Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania
    2. Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania
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  • Margaret E. Cooper,

    1. Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania
    2. Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania
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  • Kathleen M. Bardi,

    1. Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania
    2. Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania
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  • Frederic W.B. Deleyiannis,

    1. Department of Surgery, Division of Plastic and Reconstructive Surgery, University of Pittsburgh, Pittsburgh, Pennsylvania
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  • Judith M. Resick,

    1. Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania
    2. Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania
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  • A'Delbert Bowen,

    1. Department of Pediatric Radiology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania
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  • Mark P. Mooney,

    1. Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania
    2. Department of Anthropology, University of Pittsburgh, Pittsburgh, Pennsylvania
    3. Department of Surgery, Division of Plastic and Reconstructive Surgery, University of Pittsburgh, Pittsburgh, Pennsylvania
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  • Javier Enríquez de Salamanca,

    1. Department of Plastic Surgery, “Niño Jesus” University Hospital, Universidad Autónoma, Madrid, Spain
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  • Beatriz González,

    1. Department of Plastic Surgery, “Niño Jesus” University Hospital, Universidad Autónoma, Madrid, Spain
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  • Brion S. Maher,

    1. Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania
    2. Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania
    Current affiliation:
    1. Department of Psychiatry, Virginia Commonwealth University, USA.
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  • Rick A. Martin,

    1. Department of Pediatrics, Division of Medical Genetics, Washington University School of Medicine, St. Louis, Missouri
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  • Mary L. Marazita

    Corresponding author
    1. Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania
    2. Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania
    3. Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania
    4. Department of Psychiatry, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania
    • Suite 500 Cellomics/Bridgeside Point Building, 100 Technology Drive, Pittsburgh, PA 15219.
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  • How to cite this article: Neiswanger K, Weinberg SM, Rogers CR, Brandon CA, Cooper ME, Bardi KM, Deleyiannis FWB, Resick JM, Bowen A, Mooney MP, de Salamanca JE, González B, Maher BS, Martin RA, Marazita ML. 2007. Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate. Am J Med Genet Part A 143A:1143–1149.

Abstract

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. © 2007 Wiley-Liss, Inc.

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