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