Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p57 | (1) | ICCBH2019

Effective therapy with growth hormone of an adolescent patient with growth hormone deficiency and osteopetrosis: A case report

Vlachopapadopoulou Elpis Athina , Dikaiakou Eirini , Samelis Panagiotis , Michalacos Stefanos

Background: Osteopetrosis (OP) is a bone disease which is characterized by increased bone density. Autosomal dominant osteopetrosis type II (ADO II, also called Albers-Schönberg disease) is the most common type and it is caused by heterozygous mutations in the chloride channel 7 (CLCN7) gene.Presenting problem: To present a patient with known medical and family history of osteopetrosis, who was diagnosed with Growth Hormone (GH) deficiency and was t...

ba0007p59 | (1) | ICCBH2019

Effective treatment of a patient with Hypophosphatemic Rickets leading to normal adult height

Vlachopapadopoulou Elpis-Athina , Athanasouli Fani , Dikaiakou Eirini , Samelis Panagiotis , Michalacos Stefanos

Background: Hypophosphatemic Rickets is an inherited disorder characterized by defect in bone mineralization, mainly in long bones due to hypophosphatemia. The most common form is the X-linked form but other forms such as autosomal dominant hypophosphatemic rickets and tumor-induces osteomalacia are also described. Symptoms usually begin in infancy or early childhood and there is a large spectrum of abnormalities. The most severe form causes bowing of legs, bone deformities, b...