Bone Abstracts

Background: Mucopolysaccharidosis IV is a rare, autosomal recessive disorder. Common presenting features include severe short stature, kyphoscoliosis, genu valgum, cloudy cornea, osteoporosis, mild coarsening of facial features, joint restriction in some large joints. Skeletal dysplasias should be considered in its differential diagnosis. Here we present a case whose initial diagnosis was Mucopolysaccharidosis IV and was diagnosed with osteogenesis imperfecta (OI) by COL1A2 mu...