Article
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
Clinical genetics - 1 Oct 2019
Bizaoui Varoona, Michot Caroline, Baujat Geneviève, Amouroux Cyril, Baron Sabine, Capri Yline, Cohen-Solal Martine, Collet Corinne, Dieux Anne, Geneviève David, Isidor Bertrand, Monnot Sophie, Rossi Massimiliano, Rothenbuhler Anya, Schaefer Elise, Cormier-Daire Valérie
Abstract excerpt
Pycnodysostosis is a lysosomal autosomal recessive skeletal dysplasia characterized by osteosclerosis, short stature, acro-osteolysis, facial features and an increased risk of fractures. The clinical heterogeneity of the disease and its rarity make it difficult to provide patients an accurate prognosis, as well as appropriate care and follow-up. French physicians from the OSCAR network have been asked to fill out...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.