Bone Abstracts

The objective of this study was to evaluate the ability of various quantitative ultrasound variables to discriminate osteoporotic female corticosteroid users. Thirty-two women aged between 26 and 79 years who have been receiving corticosteroids equivalent to a minimum of 5 mg daily prednisolone for more than 3 months underwent bone mineral density (BMD) measurements at the lumbar spine, hip, and one-third radius (33% radius) using dual-energy X-ray absorptiometry (DXA). Acoust...

Background: Lysinuric protein intolerance (LPI) is a rare autosomal recessive multisystemic metabolic disorder, caused by defective transport of cationic amino acids at the basolateral membrane of epithelial cells.Presenting problem: A 14-year-old boy was referred to our clinic for short stature. He was the second child of consanguineous healthy parents. He had previously suffered for 4 fractures occurred secondary to minimal trauma in the upper limbs. H...

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...