Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p163 | (1) | ICCBH2013

Phenotype–genotype correlation and role of ancillary investigations in atypical and rare forms of osteogenesis imperfecta

Balasubramanian Meena , Parker Michael , Bishop Nicholas J

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity to fracture. It is a variable condition with a range of clinical severity. About 90% of patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes, which shows an autosomal dominant pattern (AD) of inheritance. Other genes are associated with the autosomal recessive (AR) ...

ba0004p32 | (1) | ICCBH2015

Characteristics of Malawian children undergoing corrective bone surgeries of rickets-like lower limb deformities

Braithwaite Vickie S , Greenwood Carla L , Bishop Nicholas J , Cashman John , Prentice Ann

Cases of non-vitamin D deficiency rickets have been reported in African countries including The Gambia, South Africa and Nigeria where the likely aetiology is a chronically low dietary calcium intake. Additional aetiological factors in Gambian studies are iron deficiency leading to a disruption in phosphate metabolism.Surgical correction of pathological rickets-like lower-limb deformities is the most common operation performed at the Beit Cure Orthopaedi...