Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p120 | (1) | ICCBH2019

Mutational and phenotypic spectra in 137 Russian patients with inherited forms of rickets

Kulikova Kristina , Kolodkina Anna , Vasiliev Evgeny , Petrov Vasiliy , Tiulpakov Anatoly

Background: Inherited forms of rickets are metabolic bone diseases developing as a result of inadequate mineralization of a growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Diverse phenotypic presentation and aetiology of these disorders pose difficulties for the diagnosis and management.Objective and hypotheses: The aim of this study was to perform molecular diagnostics and clinically characterize 137 patients with here...

ba0007p38 | (1) | ICCBH2019

Clinical features and approach to treatment in pediatric patients with McCune-Albright syndrome: monocentric experience

Makazan Nadezhda , Orlova Elizaveta , Kareva Maria , Kolodkina Anna , Kalinchenko Natalia , Petrov Michael , Zubkova Natalia , Peterkova Valentina

McCune-Albright-Syndrome (MAS) is a rare multisystem disorder presenting with polyostotic fibrous dysplasia accompanied by a list of extraskeletal features including café-aulait spots and various endocrine hyperfunctioning. There is no effective treatment for FD in MAS nowadays. Patients with MAS (n=60, 49 girls(G) and 11 boys (B) have been diagnosed and followed up during 20 years in the Institute of Pediatric Endocrinology. First clinical manifestations were pe...