Title: Review: Facial endophenotypes in non-syndromic orofacial clefting
Authors: Roosenboom, Jasmien ×
Claes, Peter
Devriendt, Koenraad
Dormaar, T
Peeters, Hilde
Saey, Ine
Schoenaers, Joseph
Vander Poorten, Vincent
Verdonck, Anna
Hens, Greet #
Issue Date: 2015
Publisher: Royal Belgian Society for Ear, Nose, Throat, Head & Neck Surgery
Series Title: B-ENT vol:11 issue:3 pages:173-182
Abstract: Cleft lip and/or palate (CL/P) is one of the most frequent congenital malformations, with a frequency of 1 in 700 live births. Non-syndromic orofacial clefting is a multifactorial condition, with both a genetic and an environmental component. Although numerous studies have been published addressing the genetic etiology of CL/P, this factor remains incompletely understood. A promising approach to find candidate gene regions for CL/P is the investigation of endophenotypes, which are characteristics associated with a certain condition and that can be an expression of underlying susceptibility genes. This review focuses on the known facial endophenotypes in CL/P (such as distortion of the orbicularis oris muscle and facial features in non-affected relatives of patients with CL/P) and genes that could be associated with these characteristics. Possibilities for further endophenotype-related studies in the field of non-syndromic CL/P are discussed.
Description: Roosenboom J., Claes P., Devriendt K., Dormaar T., Peeters H., Saey I., Schoenaers J., Vander Poorten V., Verdonck A., Hens G., ''Review: Facial endophenotypes in non-syndromic orofacial clefting'', B-ENT, vol. 11, pp. 173-182, 2015.
ISSN: 0001-6497
Publication status: published
KU Leuven publication type: IT
Appears in Collections:ESAT - PSI, Processing Speech and Images
Research Group Experimental Oto-rhino-laryngology
Department of Human Genetics - miscellaneous
Head and Neck Oncology (+)
Oral and Maxillo-facial Surgery - Imaging & Pathology (OMFS-IMPATH)
× corresponding author
# (joint) last author

Files in This Item:
File Description Status SizeFormat
3910_preprint.pdf Accepted 722KbAdobe PDFView/Open Request a copy
2015-11-3-173-Roosenboom.pdf Published 361KbAdobe PDFView/Open Request a copy

These files are only available to some KU Leuven Association staff members


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science