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

• Main Authors: Manogari Chetty (Author), Imaan Roomaney (Author), Chandré Oosterwyk (Author), Noluthando Manyisa (Author), Christian Domilongo Bope (Author), Gloudi Agenbag (Author), Ambroise Wonkam (Author)
• Format: Book
• Published: Nature Publishing Group, 2022-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...