Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1

We report on four patients from three families presenting with sandwich vertebrae and platyspondyly. The long bone phenotypes were discordant with one patient showing modeling defects and patchy osteosclerosis, while the second displayed only metaphyseal sclerotic bands, and the third and fourth had extreme metaphyseal flaring with uniform osteosclerosis.

Source: Bone - December 8, 2018 Category: Orthopaedics Authors: Antonia Howaldt, Sheela Nampoothiri, Lisa-Marie Quell, Ayse Ozden, Bj örn Fischer-Zirnsak, Corinne Collet, Marie-Christine de Vernejoul, Hakan Döneray, Hülya Kayserili, Uwe Kornak Tags: Case Report Source Type: research