Autosomal dominant osteopetrosis

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Abstract
Osteopetrosis is a rare metabolic disorder, characterized by an abnormal accumulation of bone mass probably caused by diminished bone resorption. Symptoms are directly and indirectly derived from the increased amount of bone. A family study was made, starting with a proband presenting with symptoms of trigeminal neuralgia. The pedigree indicated an autosomal dominant inheritance through three generations, comprising four affected subjects, of whom two were free of symptoms.