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Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate.
Sci Rep. 2020 12 10; 10(1):21666.SR

Abstract

Isolated orofacial clefts (OFC) are common with poorly understood aetiology. Heterogeneous phenotypes and subphenotypes confound aetiological variant findings. To improve OFC phenome understanding, population-based, consecutive, pre-treatment infants with isolated unilateral cleft lip (UCL, n = 183) and isolated cleft palate (CP, n = 83) of similar ancestry were grouped for deep phenotyping. Subphenotypes stratified by gender and cleft severity were evaluated for primary dental malformations and maturation using radiographs. We found that cleft severity and tooth agenesis were inadequate to distinguish heterogeneity in infants with UCL and CP. Both groups featured slow dental maturity, significantly slower in males and the UCL phenotype. In 32.8% of infants with UCL, supernumerary maxillary lateral incisors were present on the cleft lip side, but not in infants with CP, suggesting a cleft dental epithelium and forme fruste cleft dentoalveolus of the UCL subphenotype. The findings underscored the importance of deep phenotyping to disclose occult OFC subphenotypes.

Authors+Show Affiliations

Department of Orthodontics, National Dental Centre, SingHealth Duke-NUS Oral Health Academic Programme, 5 Second Hospital Avenue, Singapore, 168938, Singapore. mimi.yow@singhealth.com.sg. Department of Dental Medicine, Karolinska Institutet, Alfred Nobels Allé 8, Huddinge, Sweden. mimi.yow@singhealth.com.sg.Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, Nørre Allé 20, 2200, Copenhagen N, Denmark.Singapore Clinical Research Institute (SCRI), 31 Biopolis Way, Singapore, 138669, Singapore.Department of Dental Medicine, Karolinska Institutet, Alfred Nobels Allé 8, Huddinge, Sweden.Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, Nørre Allé 20, 2200, Copenhagen N, Denmark.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

33303814

Citation

Yow, Mimi, et al. "Deep Orofacial Phenotyping of Population-based Infants With Isolated Cleft Lip and Isolated Cleft Palate." Scientific Reports, vol. 10, no. 1, 2020, p. 21666.
Yow M, Hermann NV, Wei Y, et al. Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate. Sci Rep. 2020;10(1):21666.
Yow, M., Hermann, N. V., Wei, Y., Karsten, A., & Kreiborg, S. (2020). Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate. Scientific Reports, 10(1), 21666. https://doi.org/10.1038/s41598-020-78602-w
Yow M, et al. Deep Orofacial Phenotyping of Population-based Infants With Isolated Cleft Lip and Isolated Cleft Palate. Sci Rep. 2020 12 10;10(1):21666. PubMed PMID: 33303814.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate. AU - Yow,Mimi, AU - Hermann,Nuno V, AU - Wei,Yuan, AU - Karsten,Agneta, AU - Kreiborg,Sven, Y1 - 2020/12/10/ PY - 2020/09/04/received PY - 2020/11/24/accepted PY - 2020/12/11/entrez PY - 2020/12/12/pubmed PY - 2021/5/18/medline SP - 21666 EP - 21666 JF - Scientific reports JO - Sci Rep VL - 10 IS - 1 N2 - Isolated orofacial clefts (OFC) are common with poorly understood aetiology. Heterogeneous phenotypes and subphenotypes confound aetiological variant findings. To improve OFC phenome understanding, population-based, consecutive, pre-treatment infants with isolated unilateral cleft lip (UCL, n = 183) and isolated cleft palate (CP, n = 83) of similar ancestry were grouped for deep phenotyping. Subphenotypes stratified by gender and cleft severity were evaluated for primary dental malformations and maturation using radiographs. We found that cleft severity and tooth agenesis were inadequate to distinguish heterogeneity in infants with UCL and CP. Both groups featured slow dental maturity, significantly slower in males and the UCL phenotype. In 32.8% of infants with UCL, supernumerary maxillary lateral incisors were present on the cleft lip side, but not in infants with CP, suggesting a cleft dental epithelium and forme fruste cleft dentoalveolus of the UCL subphenotype. The findings underscored the importance of deep phenotyping to disclose occult OFC subphenotypes. SN - 2045-2322 UR - https://www.unboundmedicine.com/medline/citation/33303814/Deep_orofacial_phenotyping_of_population_based_infants_with_isolated_cleft_lip_and_isolated_cleft_palate_ L2 - https://doi.org/10.1038/s41598-020-78602-w DB - PRIME DP - Unbound Medicine ER -