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.
Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate†
Article first published online: 11 MAY 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 143A, Issue 11, pages 1143–1149, 1 June 2007
How to Cite
Neiswanger, K., Weinberg, S. M., Rogers, C. R., Brandon, C. A., Cooper, M. E., Bardi, K. M., Deleyiannis, F. W.B., Resick, J. M., Bowen, A., Mooney, M. P., de Salamanca, J. E., González, B., Maher, B. S., Martin, R. A. and Marazita, M. L. (2007), Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate. Am. J. Med. Genet., 143A: 1143–1149. doi: 10.1002/ajmg.a.31760
- Issue published online: 21 MAY 2007
- Article first published online: 11 MAY 2007
- Manuscript Accepted: 16 FEB 2007
- Manuscript Received: 19 AUG 2006
- National Institute of Dental and Craniofacial Research/NIH. Grant Numbers: R01-016148, R21-016930, P50-DE016215
- GCRC 5M01. Grant Number: RR00084
- orbicularis oris muscle;
- cleft lip;
- cleft lip and palate;
- unaffected relatives
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.