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Dental phenotype in an adolescent with osteogenesis imperfecta type XII

Mutation in SP7, encoding the osteoblast-specific transcription factor SP7 (also known as osterix), has been described to cause osteogenesis imperfecta (OI) type XII. However, the exact dental phenotype has not been well described. We report the detailed dental manifestation of a boy known to have O...

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Autores principales: Tung, Joanna Yuet-ling, Ho, Jeni Lai-in, Wong, Ricky, Fung, Siu-chung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9013958/
https://www.ncbi.nlm.nih.gov/pubmed/35418376
http://dx.doi.org/10.1136/bcr-2021-246554
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author Tung, Joanna Yuet-ling
Ho, Jeni Lai-in
Wong, Ricky
Fung, Siu-chung
author_facet Tung, Joanna Yuet-ling
Ho, Jeni Lai-in
Wong, Ricky
Fung, Siu-chung
author_sort Tung, Joanna Yuet-ling
collection PubMed
description Mutation in SP7, encoding the osteoblast-specific transcription factor SP7 (also known as osterix), has been described to cause osteogenesis imperfecta (OI) type XII. However, the exact dental phenotype has not been well described. We report the detailed dental manifestation of a boy known to have OI type XII, presented with impacted dentition, necessitating combined oral and maxillofacial surgical and orthodontic treatment. This case also highlighted the need of multidisciplinary team assessment in this group of children.
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spelling pubmed-90139582022-05-02 Dental phenotype in an adolescent with osteogenesis imperfecta type XII Tung, Joanna Yuet-ling Ho, Jeni Lai-in Wong, Ricky Fung, Siu-chung BMJ Case Rep Case Reports: Rare disease Mutation in SP7, encoding the osteoblast-specific transcription factor SP7 (also known as osterix), has been described to cause osteogenesis imperfecta (OI) type XII. However, the exact dental phenotype has not been well described. We report the detailed dental manifestation of a boy known to have OI type XII, presented with impacted dentition, necessitating combined oral and maxillofacial surgical and orthodontic treatment. This case also highlighted the need of multidisciplinary team assessment in this group of children. BMJ Publishing Group 2022-04-13 /pmc/articles/PMC9013958/ /pubmed/35418376 http://dx.doi.org/10.1136/bcr-2021-246554 Text en © BMJ Publishing Group Limited 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) .
spellingShingle Case Reports: Rare disease
Tung, Joanna Yuet-ling
Ho, Jeni Lai-in
Wong, Ricky
Fung, Siu-chung
Dental phenotype in an adolescent with osteogenesis imperfecta type XII
title Dental phenotype in an adolescent with osteogenesis imperfecta type XII
title_full Dental phenotype in an adolescent with osteogenesis imperfecta type XII
title_fullStr Dental phenotype in an adolescent with osteogenesis imperfecta type XII
title_full_unstemmed Dental phenotype in an adolescent with osteogenesis imperfecta type XII
title_short Dental phenotype in an adolescent with osteogenesis imperfecta type XII
title_sort dental phenotype in an adolescent with osteogenesis imperfecta type xii
topic Case Reports: Rare disease
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9013958/
https://www.ncbi.nlm.nih.gov/pubmed/35418376
http://dx.doi.org/10.1136/bcr-2021-246554
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