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

Abstract Introduction 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...

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Bibliographic Details
Main Authors: Manogari Chetty, Imaan Roomaney, Chandré Oosterwyk, Noluthando Manyisa, Christian Domilongo Bope, Gloudi Agenbag, Ambroise Wonkam
Format: Article
Language:English
Published: Nature Publishing Group 2022-09-01
Series:BDJ Open
Online Access:https://doi.org/10.1038/s41405-022-00120-w