Craniofacial, dental, and molecular features of Pyle disease in a South African child

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dc.contributor.authorChetty, Manogari
dc.contributor.authorRoomaney, Imaan
dc.contributor.authorOosterwyk, Chandré
dc.date.accessioned2022-10-11T07:42:22Z
dc.date.available2022-10-11T07:42:22Z
dc.date.issued2022
dc.description.abstractPyle 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.en_US
dc.identifier.citationChetty, 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-wen_US
dc.identifier.issn2056-807X
dc.identifier.urihttps://doi.org/10.1038/s41405-022-00120-w
dc.identifier.urihttp://hdl.handle.net/10566/8031
dc.language.isoenen_US
dc.publisherSpringer Natureen_US
dc.subjectCraniofacialen_US
dc.subjectPyle diseaseen_US
dc.subjectDentalen_US
dc.subjectSouth Africaen_US
dc.subjectFamilial metaphyseal dysplasiaen_US
dc.titleCraniofacial, dental, and molecular features of Pyle disease in a South African childen_US
dc.typeArticleen_US

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