Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p21 | (1) | ICCBH2013

Bone disease in children with geroderma osteodysplasticum: a 25-year experience from a single tertiary centre

Gopal-Kothandapani J S , Padidela R , Clayton-Smith J , Chandler K E , Adams J E , Freemont A J , Mughal M Z

Geroderma osteodysplasticum (GO) is a rare autosomal recessive connective tissue disorder characterised by progeria like facies, wrinkled lax skin, joint hypermobility, congenital dislocation of hips and propensity to fragility fractures. In the past 25 years, five patients (three females and two males) diagnosed with GO were referred to our Paediatric metabolic bone service for assessment and management of secondary bone problems. All five children were born to consanguineous...