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Updated: Sep 27, 2025

Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
Dental phenotype in an adolescent with osteogenesis imperfecta type XII
Joanna Yuet-Ling Tung1, Jeni Lai-In Ho2, Ricky Wong2
1Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, Hong Kong tungylj@yahoo.com.hk.
Abstract:
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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