hrp0094p2-60 | Bone, growth plate and mineral metabolism | ESPE2021

Osteosclerotic Metaphyseal Dysplasia: A novel homozygous LRRK1 mutation in two siblings

Pieridou Chariklia , Uday Suma , Shaw Nick ,

Background: Osteosclerotic metaphyseal dysplasia (OSMD, OMIM 615198) is an extremely rare autosomal recessive disorder, within the family of sclerosing bone dysplasias. It is a distinctive type of osteopetrosis characterised by a unique pattern of osteosclerosis predominantly involving the metaphyseal margins of the long tubular bones. OSMD is characterised by skeletal deformity and multiple fractures and associated clinically with developmental delay, hypoton...