Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate

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,...

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Autores principales:	Mimi Yow, Nuno V. Hermann, Yuan Wei, Agneta Karsten, Sven Kreiborg
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/98a81c2f534e421394660e732601e056
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spelling	oai:doaj.org-article:98a81c2f534e421394660e732601e0562021-12-02T16:18:03ZDeep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate10.1038/s41598-020-78602-w2045-2322https://doaj.org/article/98a81c2f534e421394660e732601e0562020-12-01T00:00:00Zhttps://doi.org/10.1038/s41598-020-78602-whttps://doaj.org/toc/2045-2322Abstract 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.Mimi YowNuno V. HermannYuan WeiAgneta KarstenSven KreiborgNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Mimi Yow Nuno V. Hermann Yuan Wei Agneta Karsten Sven Kreiborg Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate
description	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.
format	article
author	Mimi Yow Nuno V. Hermann Yuan Wei Agneta Karsten Sven Kreiborg
author_facet	Mimi Yow Nuno V. Hermann Yuan Wei Agneta Karsten Sven Kreiborg
author_sort	Mimi Yow
title	Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate
title_short	Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate
title_full	Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate
title_fullStr	Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate
title_full_unstemmed	Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate
title_sort	deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/98a81c2f534e421394660e732601e056
work_keys_str_mv	AT mimiyow deeporofacialphenotypingofpopulationbasedinfantswithisolatedcleftlipandisolatedcleftpalate AT nunovhermann deeporofacialphenotypingofpopulationbasedinfantswithisolatedcleftlipandisolatedcleftpalate AT yuanwei deeporofacialphenotypingofpopulationbasedinfantswithisolatedcleftlipandisolatedcleftpalate AT agnetakarsten deeporofacialphenotypingofpopulationbasedinfantswithisolatedcleftlipandisolatedcleftpalate AT svenkreiborg deeporofacialphenotypingofpopulationbasedinfantswithisolatedcleftlipandisolatedcleftpalate
_version_	1718384187003633664

Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate

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