IMPE Abstracts

Skeletal dysplasia (SD) and metabolic bone diseases (MBD) are congenital diseases which result in abnormalities in bone morphometry and mineral metabolism. Advances in molecular genetics research have revealed many gene variants that cause SD and MBD. In 2019, nosology and classification of genetic skeletal disorders was revised in which 437 different genes have been found in 425 (92%) of these disorders 1), and new genetic etiologies are continually being discovere...

Osteogenesis imperfecta (OI) is a hereditary skeletal disease characterized by bone fragility. Bone mineral density (BMD), evaluated by dual-energy X-ray absorptiometry (DXA), is used to assess bone brittleness. The height-for-age Z-score (HAZ)-adjusted BMD-for-age Z-score (BMDHAZ) to reduce the confounding factor of short stature is calculated in children and adolescents with OI. However, even with BMDHAZ, severity evaluation in children and adolescents ...

Hypophosphatasia (HPP) is a congenital skeletal disorder characterized by failure of bone calcification, which is caused by deficiency of the tissue non-specific alkaline phosphatase (TNSALP) enzyme. There is a remarkable range of severity in the phenotype, and some pediatric HPP patients show failure to thrive depending on their severity. In this study, we aim to elucidate the association between serum ALP activity and growth in HPP children. Twenty-six HPP patients (16 males...