Craniofacial, dental, and molecular features of Pyle disease in a South African child
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Date
2022
Journal Title
Journal ISSN
Volume Title
Publisher
Springer Nature
Abstract
Pyle Disease (PD), or familial metaphyseal dysplasia [OMIM 265900], is a rare autosomal recessive condition
leading to widened metaphyses of long bones and cortical bone thinning and genu valgum. We detail the oro-dental and
molecular findings in a South African patient with PD. The patient underwent clinical, radiographic and molecular examinations. An exfoliated tooth was analysed using
scanning electron microscopy and was compared to a control tooth. The patient presented with marked Erlenmeyer-flask deformity (EFD) of the long bones and several Wormian bones. His
dental development was delayed by approximately three years. The permanent molars were mesotaurodontic. The bones,
including the jaws and cervical vertebrae, showed osteoporotic changes.
Description
Keywords
Craniofacial, Pyle disease, Dental, South Africa, Familial metaphyseal dysplasia
Citation
Chetty, M. et al. (2022). Craniofacial, dental, and molecular features of Pyle disease in a South African child. BDJ Open, 8(1), 28. https://doi.org/10.1038/s41405-022-00120-w