hrp0095p1-24 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

SIADH as presenting feature of foramen magnum stenosis in a 2-month-old infant with achondroplasia (ACH): case report and discussion on management of infants with ACH in order to reduce the risk of serious complications

Nurcan Cebeci Ayse , Hebert Steven , Reutter Heiko , Wölfle Joachim

Background and Aim: Achondroplasia is the most common skeletal dysplasia and is associated with serious complications such as foramen magnum stenosis (FMS). Current guidelines in Germany recommend polysomnography at 2-3 months and cranial imaging at 6-9 months of life in achondroplasia, whereas American Academy of Pediatrics recommends to evaluate every infant with achondroplasia for cranio-cervical junction risks via neurologic examination, polysomnography an...