hrp0097p1-22 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Fibroblast growth factor receptor-3 (FGFR3) mutation frequency in 17 Albanian children who were clinically to have Achondro – Hypochondroiplasia

Gjikopulli Agim , Cullufi Paskal , Kollcaku Laurant , Tomori Sonila , Tako Aferdita

Keywords: Achondroplasia, Hypochondroplasia, Dwarfism, Fibroblast growth factor receptor-3.Introduction: Achondroplasia (ACH) and hypochondroplasia (HCH) are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases characterized by a rhizomelic shortening of the limbs, genu varum, trident hands, large head with frontal bossing and hypoplasia of the mid-face. Both ACH and HCH are caused by mi...

hrp0086p2-p185 | Bone & Mineral Metabolism P2 | ESPE2016

Multifocal Osteonecrosis after Short Term Methylprednysolon Therapy: A Case Report

Kumaraku Aferdita Tako , Bushati Aida , Gjikopulli Agim , Shehu Armand , Grimci Lindita , Tomorri Sonila , Babo Alma , Mecani Reinald , Basholli Besmira , Dervishi Ermira , Velmishi Virtut , Kollcaku Laurant , Cullufi Paskal

Background: Osteonecrosis is a common sequela of long-term steroid therapy. This paper presents the only case of multifocal osteonecrosis to occur after a short-term course of methylprednisolone for treatment Steven Johns syndrome.Objective and hypotheses: To report a case with multifocal osteonecrosis after short-term methylprednysolon therapy.Method: The child A.N. 15 years old with multifoc...