ArticleBioMed research international2015
Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate.
Article in BioMed research international, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.Nature communications · 2024Article
- Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.bioRxiv : the preprint server for biology · 2023Article
- Computational Analysis of Olfactory Airspace in Patients With Unilateral Cleft Lip Nasal Deformity.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2021Article
- The Intersection of the Genetic Architectures of Orofacial Clefts and Normal Facial Variation.Frontiers in genetics · 2021Article
- Six NSCL/P Loci Show Associations With Normal-Range Craniofacial Variation.Frontiers in genetics · 2018Article
- Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting.American journal of medical genetics. Part A · 2017Article
- Exploring the Underlying Genetics of Craniofacial Morphology through Various Sources of Knowledge.BioMed research international · 2016Review
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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