hrp0089rfc2.5 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

Identification of Characteristic Neurological Complications in Infants with Achondroplasia by Routine MRI Screening

Dougherty Harry , Shaunak Meera , Irving Melita , Thompson Dominic , Cheung Moira S

Background: Achondroplasia is the commonest type of skeletal dysplasia with an incidence of 1 in 20,000 and is due to recurrent and dominantly transmitted, activating mutations in Fibroblast Growth Factor Receptor 3 (FGFR3). Complications during infancy include foramen magnum stenosis and hydrocephalus which may lead to neurological morbidity and sudden unexplained mortality. Early detection and appropriate neurosurgical management can prevent these complications. How...

hrp0094p1-15 | Bone A | ESPE2021

Vitamin D status and guidelines in Paediatric Inflammatory Multisystem Syndrome Temporarily associated with SARS-CoV-2 (PIMS-TS)

Brighouse James Robert , Wan Mandy , Duncan Emma , Handforth Jennifer , Kenny Julia , Mughal M. Zulf , Riphagen Shelley , Theocharis Paraskevi , Cheung Moira S. ,

Introduction: Paediatric Inflammatory Multisystem Syndrome Temporarily associated with SARS-CoV-2 (PIMS-TS) was first reported by our hospital in the UK. Vitamin D3(25(OH)D) has important roles in cardiac function, immunomodulation, and inflammation. It therefore may be an important biomarker for severity in PIMS-TS, however 25(OH)D status and treatment guidance in PIMS-TS are lacking. We report serum 25(OH)D levels on admission and associations wit...