by sabine | Jul 2, 2022 | Publication
Abstract A pre-meeting workshop on spinal complications in children and adults with achondroplasia was held in Dublin, Ireland at the 10th International Conference on Children’s Bone Health (ICCBH) (2–5 July 2022). The pathophysiology, natural history and...by sabine | May 1, 2022 | Publication
Background The European Registry for Rare Bone and Mineral Conditions (EuRR-Bone) is closely linked to the European Reference Networks on Rare Bone Diseases (ERN BOND) and Rare Endocrine Conditions (Endo-ERN) and with its registry EuRRECa. It is however open to all...by sabine | May 1, 2022 | Publication
Background EuRR-Bone offers an electronic reporting system (e-REC) that captures the occurrence of rare conditions within reference networks such as ERN BOND and Endo-ERN. Secondary surveys following the reported cases in e-REC collect a brief amount of data for...by sabine | Mar 23, 2022 | Publication
Objective To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Design and methods A questionnaire was designed and distributed, including 17...by sabine | Feb 1, 2022 | Publication
Background Parathyroid carcinoma (PC) is an extremely rare malignant endocrine tumour of the parathyroid glands. Due to its rarity, several aspects regarding diagnosis, prognosis, clinical management, recurrence, and tumour-related complications remain poorly...