title: Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate.
abstract: Evidence exists for the presence of a specific facial phenotype in nonaffected first-degree relatives of persons with CL/P. An increased risk for olfactory dysfunction has also been reported in CL/P-relatives. These phenotypic features can probably be explained via the presence of CL/P-related susceptibility genes. We aimed at confirming the occurrence of these endophenotypic traits in first-degree CL/P-relatives, and we investigated the link between the facial phenotype and the smell capacity in this group. We studied the facial morphology of 88 nonaffected first-degree relatives of patients with CL/P and 33 control subjects without family history of facial clefting by 3D surface imaging and a spatially dense analysis of the images. Smell testing was performed in 30 relatives and compared with 23 control subjects. Nonaffected relatives showed midface retrusion, hypertelorism, and olfactory dysfunction, compared to controls. In addition, we show for the first time that olfactory dysfunction in relatives is correlated to a smaller upper nasal region. This might be explained by a smaller central olfactory system. The different facial morphology in the relatives with olfactory impairment as compared to the total group may be an illustration of the contribution of different genetic backgrounds to the occurrence of CL/P via different biological pathways.
authors.affiliation: Department of Neurosciences, Experimental Otorhinolaryngology, KU Leuven, Herestraat 49, P.O. Box 721, 3000 Leuven, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Roosenboom
authors.affiliation: Medical 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.
authors.forename: I
authors.initials: I
authors.lastname: Saey
authors.affiliation: Center for Human Genetics, University Hospitals Leuven, KU Leuven, Herestraat 49, P.O. Box 602, 3000 Leuven, Belgium.
authors.forename: H
authors.initials: H
authors.lastname: Peeters
authors.affiliation: Center for Human Genetics, University Hospitals Leuven, KU Leuven, Herestraat 49, P.O. Box 602, 3000 Leuven, Belgium ; Multidisciplinary Cleft Lip and Palate Team, UZ Leuven, Kapucijnenvoer 33, 3000 Leuven, Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.affiliation: Medical 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.
authors.forename: P
authors.initials: P
authors.lastname: Claes
authors.affiliation: Department of Neurosciences, Experimental Otorhinolaryngology, KU Leuven, Herestraat 49, P.O. Box 721, 3000 Leuven, Belgium ; Multidisciplinary Cleft Lip and Palate Team, UZ Leuven, Kapucijnenvoer 33, 3000 Leuven, Belgium ; Department of Otorhinolaryngology, Head and Neck Surgery, UZ Leuven, Kapucijnenvoer 33, 3000 Leuven, Belgium.
authors.forename: G
authors.initials: G
authors.lastname: Hens
mesh_terms: D000328:Adult; D001921:Brain / Q000002:abnormalities* / Q000503:physiopathology; D002971:Cleft Lip / Q000235:genetics / Q000503:physiopathology*; D002972:Cleft Palate / Q000235:genetics / Q000503:physiopathology*; D005145:Face / Q000503:physiopathology*; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D066194:Olfactory Cortex / Q000503:physiopathology; D055696:Olfactory Perception / Q000235:genetics / Q000502:physiology*; D010641:Phenotype; D012903:Smell / Q000502:physiology*