hrp0095p2-48 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

An Unusual Case of Rickets and Anemia Due To Severe Nutritional Deficiency in A Child of Non-Caucasian Ethnicity

Urbano Flavia , Chiarito Mariangela , Moscogiuri Luigi , Felicia Faienza Maria

Background: Rickets is a disease due to a reduced mineralization of the rapidly growing bones (skull, ribs, wrists, knees, ankles) with consequent accumulation of non-mineralized bone matrix, called osteoid tissue. The most frequent cause of rickets is vitamin D and/or calcium deficiency caused by reduced sun exposure, inadequate dietary intake or malabsorption (nutritional rickets).Clinical history: R., a 1 year and 6 m...

hrp0095p1-33 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Primary or Secondary Bone Fragility? This is The Question

Urbano Flavia , Chiarito Mariangela , Brunetti Giacomina , Guarnieri Vito , Castori Marco , Felicia Faienza Maria

Background: Pediatric osteoporosis is a condition which can stem from genetic causes (Primary osteoporosis), from systemic diseases or from the chronic use of drugs that alter bone metabolism (secondary osteoporosis). Obesity affects bone health in several ways, including bone remodeling, proinflammatory cytokine production and bone marrow microenvironment alteration. We describe the case of a boy who presented spontaneous vertebral fractures.<p class="abs...

hrp0097p1-330 | Growth and Syndromes | ESPE2023

A complex phenotype due to the overlap of two rare conditions: miller-mckusick-malvaux (3M) and chung-jansen syndrome

Chiarito Mariangela , Giordano Mara , Mellone Simona , Urbano Flavia , Felicia Faienza Maria

Introduction: I. was born at term by emergency caesarean delivery due to foetal distress, by unrelated parents. Birth weight: 2160 g (-3.18 SD), length 41.5 cm (-4.47 SD), head circumference 35.4 cm (0.57 SD). He was admitted in the neonatal intensive care unit (NICU) for the severe growth retardation associated to dysmorphic features. Neonatal screening, echocardiography and brain ultrasound normal. Karyotype: 46,XY.Case present...