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BioMed Research International
Volume 2015, Article ID 863429, 8 pages
http://dx.doi.org/10.1155/2015/863429
Research Article

Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate

1Department of Neurosciences, Experimental Otorhinolaryngology, KU Leuven, Herestraat 49, P.O. Box 721, 3000 Leuven, Belgium
2Medical Image Computing, ESAT/PSI, Department of Electrical Engineering, KU Leuven, Medical Imaging Research Center, KU Leuven and UZ Leuven, iMinds-KU Leuven Future Health Department, Herestraat 49, P.O. Box 7003, 3000 Leuven, Belgium
3Center for Human Genetics, University Hospitals Leuven, KU Leuven, Herestraat 49, P.O. Box 602, 3000 Leuven, Belgium
4Multidisciplinary Cleft Lip and Palate Team, UZ Leuven, Kapucijnenvoer 33, 3000 Leuven, Belgium
5Department of Otorhinolaryngology, Head and Neck Surgery, UZ Leuven, Kapucijnenvoer 33, 3000 Leuven, Belgium

Received 22 January 2015; Accepted 22 April 2015

Academic Editor: Junichi Iwata

Copyright © 2015 J. Roosenboom et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. E. J. Leslie, M. A. Mansilla, L. C. Biggs et al., “Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22,” Birth Defects Research Part A: Clinical and Molecular Teratology, vol. 94, no. 11, pp. 934–942, 2012. View at Publisher · View at Google Scholar · View at Scopus
  2. M. L. Marazita, “The evolution of human genetic studies of cleft lip and cleft palate,” Annual Review of Genomics and Human Genetics, vol. 13, pp. 263–283, 2012. View at Publisher · View at Google Scholar · View at Scopus
  3. M. Leboyer, F. Bellivier, R. Jouvent, M. Nosten-Bertrand, J. Mallet, and D. Pauls, “Psychiatric genetics: search for phenotypes,” Trends in Neurosciences, vol. 21, no. 3, pp. 102–105, 1998. View at Publisher · View at Google Scholar · View at Scopus
  4. R. A. Martin, V. Hunter, W. Neufeld-Kaiser et al., “Ultrasonographic detection of orbicularis oris defects in first degree relatives of isolated cleft lip patients,” American Journal of Medical Genetics, vol. 90, no. 2, pp. 155–161, 2000. View at Publisher · View at Google Scholar · View at Scopus
  5. K. Neiswanger, S. M. Weinberg, C. R. Rogers et al., “Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate,” American Journal of Medical Genetics, Part A, vol. 143, no. 11, pp. 1143–1149, 2007. View at Publisher · View at Google Scholar · View at Scopus
  6. J. Daskalogiannakis, K. L. Kuntz, A. E. Chudley, and R. B. Ross, “Unilateral cleft lip with or without cleft palate and handedness: is there an association?” Cleft Palate-Craniofacial Journal, vol. 35, no. 1, pp. 46–51, 1998. View at Publisher · View at Google Scholar · View at Scopus
  7. M. B. Chollet, V. B. DeLeon, A. L. Conrad, and P. Nopoulos, “Morphometric analysis of brain shape in children with nonsyndromic cleft lip and/or palate,” Journal of Child Neurology, vol. 29, no. 12, pp. 1616–1625, 2013. View at Google Scholar
  8. P. Nopoulos, D. R. Langbehn, J. Canady, V. Magnotta, and L. Richman, “Abnormal brain structure in children with isolated clefts of the lip or palate,” Archives of Pediatrics and Adolescent Medicine, vol. 161, no. 8, pp. 753–758, 2007. View at Publisher · View at Google Scholar · View at Scopus
  9. S. M. Weinberg, T. E. Parsons, M. R. Fogel, C. P. Walter, A. L. Conrad, and P. Nopoulos, “Corpus callosum shape is altered in individuals with nonsyndromic cleft lip and palate,” American Journal of Medical Genetics A, vol. 161, no. 5, pp. 1002–1007, 2013. View at Publisher · View at Google Scholar · View at Scopus
  10. P. Claes, M. Walters, M. D. Shriver et al., “Sexual dimorphism in multiple aspects of 3D facial symmetry and asymmetry defined by spatially dense geometric morphometrics,” Journal of Anatomy, vol. 221, no. 2, pp. 97–114, 2012. View at Publisher · View at Google Scholar · View at Scopus
  11. P. Claes, D. K. Liberton, K. Daniels et al., “Modeling 3D facial shape from DNA,” PLoS Genetics, vol. 10, no. 3, Article ID e1004224, 2014. View at Publisher · View at Google Scholar · View at Scopus
  12. M. Zandi and A. Miresmaeili, “Study of the cephalometric features of parents of children with cleft lip and/or palate anomaly,” International Journal of Oral and Maxillofacial Surgery, vol. 36, no. 3, pp. 200–206, 2007. View at Publisher · View at Google Scholar · View at Scopus
  13. S. M. Weinberg, K. Neiswanger, J. T. Richtsmeier et al., “Three-dimensional morphometric analysis of craniofacial shape in the unaffected relatives of individuals with nonsyndromic orofacial clefts: a possible marker for genetic susceptibility,” American Journal of Medical Genetics, Part A, vol. 146, no. 4, pp. 409–420, 2008. View at Publisher · View at Google Scholar · View at Scopus
  14. S. Shrimpton, K. Daniels, S. de Greef et al., “A spatially-dense regression study of facial form and tissue depth: towards an interactive tool for craniofacial reconstruction,” Forensic Science International, vol. 234, pp. 103–110, 2014. View at Publisher · View at Google Scholar · View at Scopus
  15. P. Claes, M. Walters, and J. Clement, “Improved facial outcome assessment using a 3D anthropometric mask,” International Journal of Oral & Maxillofacial Surgery, vol. 41, no. 3, pp. 324–330, 2012. View at Publisher · View at Google Scholar · View at Scopus
  16. S. M. Weinberg, S. D. Naidoo, K. M. Bardi et al., “Face shape of unaffected parents with cleft affected offspring: combining three-dimensional surface imaging and geometric morphometrics,” Orthodontics & Craniofacial Research, vol. 12, no. 4, pp. 271–281, 2009. View at Publisher · View at Google Scholar · View at Scopus
  17. R. A. Richman, P. R. Sheehe, T. McCanty et al., “Olfactory deficits in boys with cleft palate,” Pediatrics, vol. 82, no. 6, pp. 840–844, 1988. View at Google Scholar · View at Scopus
  18. N. Grossmann, I. Brin, D. Aizenbud, J.-Y. Sichel, R. Gross-Isseroff, and J. Steiner, “Nasal airflow and olfactory function after the repair of cleft palate (with and without cleft lip),” Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology, vol. 100, no. 5, pp. 539–544, 2005. View at Publisher · View at Google Scholar · View at Scopus
  19. M. Mani, S. Morén, O. Thorvardsson, O. Jakobsson, V. Skoog, and M. Holmström, “Objective assessment of the nasal airway in unilateral cleft lip and palate—a long-term study,” Cleft Palate-Craniofacial Journal, vol. 47, no. 3, pp. 217–224, 2010. View at Publisher · View at Google Scholar · View at Scopus
  20. M. A. May, C. A. Sanchez, F. W. Deleyiannis, M. L. Marazita, and S. M. Weinberg, “Evidence of olfactory deficits as part of the phenotypic spectrum of nonsyndromic orofacial clefting,” The Journal of Craniofacial Surgery, vol. 26, no. 1, pp. 84–86, 2015. View at Publisher · View at Google Scholar
  21. K. Aldridge, S. A. Boyadjiev, G. T. Capone, V. B. DeLeon, and J. T. Richtsmeier, “Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric images,” American Journal of Medical Genetics, vol. 138, no. 3, pp. 247–253, 2005. View at Publisher · View at Google Scholar · View at Scopus
  22. C. P. Klingenberg and G. S. Mcintyre, “Geometric morphometrics of developmental instability: analyzing patterns of fluctuating asymmetry with procrustes methods,” Evolution, vol. 52, no. 5, pp. 1363–1375, 1998. View at Publisher · View at Google Scholar · View at Scopus
  23. K. V. Mardia, F. L. Bookstein, and I. J. Moreton, “Statistical assessment of bilateral symmetry of shapes,” Biometrika, vol. 87, no. 2, pp. 285–300, 2000. View at Publisher · View at Google Scholar · View at MathSciNet · View at Scopus
  24. H. Chui and A. Rangarajan, “A new point matching algorithm for non-rigid registration,” Computer Vision and Image Understanding, vol. 89, no. 2-3, pp. 114–141, 2003. View at Publisher · View at Google Scholar · View at Zentralblatt MATH · View at Scopus
  25. J. Snyders, P. Claes, D. Vandermeulen, and P. Suetens, “Development and comparison of non-rigid surface registration and extensions,” Tech. Rep. KUL/ESAT/PSI/1401, 2014. View at Google Scholar
  26. P. Claes, M. Walters, D. Gillett, D. Vandermeulen, J. G. Clement, and P. Suetens, “The normal-equivalent: a patient-specific assessment of facial harmony,” International Journal of Oral and Maxillofacial Surgery, vol. 42, no. 9, pp. 1150–1158, 2013. View at Publisher · View at Google Scholar · View at Scopus
  27. D. G. Kendall, D. Barden, T. K. Carne, and H. Le, Eds., Shape and Shape Theory, John Wiley & Sons, Hoboken, NJ, USA, 1999.
  28. F. J. Rohlf and D. Slice, “Extensions of the procrustes method for the optimal superimposition of landmarks,” Systematic Zoology, vol. 39, no. 1, pp. 40–59, 1990. View at Publisher · View at Google Scholar
  29. P. Claes, M. Walters, D. Vandermeulen, and J. G. Clement, “Spatially-dense 3D facial asymmetry assessment in both typical and disordered growth,” Journal of Anatomy, vol. 219, no. 4, pp. 444–455, 2011. View at Publisher · View at Google Scholar · View at Scopus
  30. M. J. Anderson, “Permutation tests for univariate or multivariate analysis of variance and regression,” Canadian Journal of Fisheries and Aquatic Sciences, vol. 58, no. 3, pp. 626–639, 2001. View at Publisher · View at Google Scholar · View at Scopus
  31. I. I. Gottesman and T. D. Gould, “The endophenotype concept in psychiatry: etymology and strategic intentions,” American Journal of Psychiatry, vol. 160, no. 4, pp. 636–645, 2003. View at Publisher · View at Google Scholar · View at Scopus
  32. C. D. L. Thomas, “Three-dimensional quantification of facial shape,” in Computer-Graphic Facial Reconstruction, pp. 55–78, Academic Press, 2005. View at Google Scholar
  33. C. D. L. Thomas, P. Claes, A. I. Shaweesh, and J. G. Clement, “Three-dimensional facial shape archetypes for identification and diagnosis,” in Proceedings of the 1st International Symposium on Biological Shape Analysis, vol. 1, pp. 131–144, Tsukuba, Japan, 2009.
  34. H. Abdi, “Partial least squares regression (pls-regression),” in Encyclopedia for Research Methods for the Social Sciences, pp. 792–795, Sage, Thousand Oaks, Calif, USA, 2003. View at Google Scholar
  35. K. Tøndel, U. G. Indahl, A. B. Gjuvsland et al., “Hierarchical Cluster-based Partial Least Squares Regression (HC-PLSR) is an efficient tool for metamodelling of nonlinear dynamic models,” BMC Systems Biology, vol. 5, no. 1, article 90, 2011. View at Publisher · View at Google Scholar · View at Scopus
  36. S. Suzuki, M. L. Marazita, M. E. Cooper et al., “Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip,” The American Journal of Human Genetics, vol. 84, no. 3, pp. 406–411, 2009. View at Publisher · View at Google Scholar · View at Scopus
  37. R. L. Doty, P. Shaman, C. P. Kimmelman, and M. S. Dann, “University of pennsylvania smell identification test: a rapid quantitative olfactory function test for the clinic,” The Laryngoscope, vol. 94, no. 2, pp. 176–178, 1984. View at Publisher · View at Google Scholar · View at Scopus
  38. T. Hummel, G. Kobal, H. Gudziol, and A. Mackay-Sim, “Normative data for the ‘Sniffin' Sticks’ including tests of odor identification, odor discrimination, and olfactory thresholds: an upgrade based on a group of more than 3,000 subjects,” European Archives of Oto-Rhino-Laryngology, vol. 264, no. 3, pp. 237–243, 2007. View at Publisher · View at Google Scholar · View at Scopus
  39. P. Rombaux, H. Potier, E. Markessis, T. Duprez, and T. Hummel, “Olfactory bulb volume and depth of olfactory sulcus in patients with idiopathic olfactory loss,” European Archives of Oto-Rhino-Laryngology, vol. 267, no. 10, pp. 1551–1556, 2010. View at Publisher · View at Google Scholar · View at Scopus
  40. P. Rombaux, T. Duprez, and T. Hummel, “Olfactory bulb volume in the clinical assessment of olfactory dysfunction,” Rhinology, vol. 47, no. 1, pp. 3–9, 2009. View at Google Scholar · View at Scopus
  41. T. Hummel, M. Smitka, S. Puschmann, J. C. Gerber, B. Schaal, and D. Buschhüter, “Correlation between olfactory bulb volume and olfactory function in children and adolescents,” Experimental Brain Research, vol. 214, no. 2, pp. 285–291, 2011. View at Publisher · View at Google Scholar · View at Scopus