Searchable abstracts of presentations at key conferences on calcified tissues

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...

ba0007p128 | (1) | ICCBH2019

Growth hormone effect on bone mineral density in a girl with osteogenesis imperfecta – a case presentation

Leka Sofia , Athanasouli Fani , Vlachopapadopoulou Elpis , Doulgeraki Artemis , Petrou Vassilios , Fotinou Aspasia , Michalacos Stefanos

Background: Osteogenesis imperfecta (OI) is characterized by bone fragility, resulting in low-energy fractures. Other features are compromised growth, blue sclerae, dental, cardiac and hearing abnormalities.Presenting problem: A girl with OI, hypothyroidism and growth hormone (GH) deficiency is presented. She was born at 32 weeks [birth weight: 1890 gr, length: 44 cm]. Her mother had OI and thyroid nodules. Both were found with heterozygous mutation in t...