ba0002p21 | (1) | ICCBH2013
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...