Autosomal dominant osteopetrosis – identification of a new mutation

Characteristic radiographic features such as "bone-within-bone" and "sandwich vertebrae" are highly suggestive of autosomal dominant osteopetrosis.<i>CLCN7</i> pathogenic variants account for most cases of autosomal dominant osteopetrosis and justify early genetic testing.This case highlights a novel <i>CLCN7</i> mutation, reinforcing the genetic heterogeneity of osteopetrosis and the value of family screening.