Searchable abstracts of presentations at key conferences on calcified tissues

ba0004p197 | (1) | ICCBH2015

Benign osteopetrosis associated with homozygous mutation in CLCN7

Allgrove Jeremy , Mathew Satheesh , Buxton Chris C , Williams Maggie

Introduction: Benign osteopetrosis type 2 (OPTA2) (Albers-Schönberg disease) is usually associated with a heterozygous mutation in CLCN7. Patients may be asymptomatic and present following an x-ray taken for other reasons or with a low trauma fracture. There may be a family history. Homozygous mutations in CLCN7 usually result in severe disease which presents in the neonatal period or early infancy. We present a case of benign osteopetrosis associated wi...