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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Detalles Bibliográficos
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:
Case Reports: Rare disease
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
Descripción
Sumario: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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