ESPE Abstracts

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...

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...

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...

Introduction: Vosoritide is licensed by EMA for the treatment of children with achondroplasia above 4 months of age in 2023 (initial approval for children above 2 years in 2021). The CNP analogue modulates enchondral bone growth and improves growth velocity. Response to therapy varies between individuals. Nineteen European centers enter auxological and diagnosis-specific data into the achondroplasia module of the CrescNet® registry to monitor treatment. We...