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

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate. / Yow, Mimi; Hermann, Nuno V.; Wei, Yuan; Karsten, Agneta; Kreiborg, Sven.

In: Scientific Reports, Vol. 10, 21666, 2020.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Yow, M, Hermann, NV, Wei, Y, Karsten, A & Kreiborg, S 2020, 'Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate', Scientific Reports, vol. 10, 21666. https://doi.org/10.1038/s41598-020-78602-w

APA

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, [21666]. https://doi.org/10.1038/s41598-020-78602-w

Vancouver

Yow M, Hermann NV, Wei Y, Karsten A, Kreiborg S. Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate. Scientific Reports. 2020;10. 21666. https://doi.org/10.1038/s41598-020-78602-w

Author

Yow, Mimi ; Hermann, Nuno V. ; Wei, Yuan ; Karsten, Agneta ; Kreiborg, Sven. / Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate. In: Scientific Reports. 2020 ; Vol. 10.

Bibtex

@article{1cda34646f854fe38bd3b8310228eb80,
title = "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, 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.",
author = "Mimi Yow and Hermann, {Nuno V.} and Yuan Wei and Agneta Karsten and Sven Kreiborg",
year = "2020",
doi = "10.1038/s41598-020-78602-w",
language = "English",
volume = "10",
journal = "Scientific Reports",
issn = "2045-2322",
publisher = "nature publishing group",

}

RIS

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

PY - 2020

Y1 - 2020

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.

AB - 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.

U2 - 10.1038/s41598-020-78602-w

DO - 10.1038/s41598-020-78602-w

M3 - Journal article

C2 - 33303814

VL - 10

JO - Scientific Reports

JF - Scientific Reports

SN - 2045-2322

M1 - 21666

ER -

ID: 253232378