hrp0097s10.2 | Bone | ESPE2023

Inherited ectopic calcification disorders

Rutsch Frank

Ectopic calcifications rarely manifest in the pediatric population. However, especially when present in arteries calcifications are often associated with severe complications. Ectopic calcification can be viewed as a phenomenon arising in a state of imbalance between systemic activators and inhibitors of calcification. Within recent years, research has led to the discovery of intricate networks regulating the systemic phosphate/pyrophosphate ratio, which seems to play an impor...

hrp0095p1-223 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Real-world data in children with achondroplasia after licensing of Vosoritide

Palm Katja , Bechthold-Dalla Pozza Susanne , Gausche Ruth , Högler Wolfgang , Hoyer- Kuhn Heike , Hübner Angela , Keller Alexandra , Mirante Alice , Mohnike Klaus , Muschol Nicole , Nader Sean , Pfäffle Roland , Quitter Friederike , Rohrer Tilmann , Rutsch Frank , Schnabel Dirk , Semler Oliver , Silva Isabel , B. Sousa Sérgio , M.K. Voelkl Thomas , Wechsung Katja , Weigel Johannes , Woelffle Joachim , Lausch Ekkehart

Background: Achondroplasia (ACH), caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), is characterized by severe growth failure and may be associated with multisystemic complications. The clinical phenotype is variable and relates to deformity of rhizomelic shortened legs, and myelon compression at cranial base and spine. Recent guidelines are published for diagnostic workflow, neurosurgical, orthopaedic and otorhinolaryngol...

hrp0097p1-414 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Multidisciplinary approach in achondroplasia – real world experience after drug approval of vosoritide

Kunkel Philip , Al Halak Maesa , Bechthold-Dalla Pozza Susanne , Grasemann Corinna , Keller Alexandra , Muschol Nadine , Nader Sean , Palm Katja , Poetzsch Simone , Rohrer Tilman , Rutsch Frank , Schnabel Dirk , Voelkl Thomas , Vogt Bjoern , Wechsung Katja , Weigel Johannes , Woelfle Joachim , Pfaeffle Roland , Gausche Ruth , Beger Christoph , Mohnike Klaus

Background: Achondroplasia (Ach) is a rare growth disorder caused by a point mutation in the fibroblast growth factor receptor 3 gene that results in dysproportionate extreme short stature and can lead to a wide range of multisystemic complications throughout the individual's life with reduced quality of life. In the past, orthopaedic and neurosurgical therapies have been developed to partially improve mobility, reduce pain and prevent neurological disabi...