Autosomal dominant osteopetrosis (a family study).
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.
Bollerslev
J
J
Department of Internal Medicine, Svendborg Hospital.
Grodum
E
E
Grøntved
A
A
D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D010022:Osteopetrosis / Q000235:genetics*; D010375:Pedigree