osteopetrosis

osteopetrosis /os′tē·ōpētrō″sis/ [Gk, osteon + petra, stone, osis, condition] , an inherited disorder characterized by a generalized increase in bone density, probably caused by faulty bone resorption resulting from a deficiency of osteoclasts. In its most severe form, transmitted as an autosomal-recessive condition, the bone marrow cavity is obliterated, causing severe anemia, marked deformities of the skull, and compression of the cranial nerves, which may result in deafness and blindness and lead to an early death. A milder, benign form, transmitted as an autosomal-dominant trait, is characterized by short stature, fragile bones that fracture easily, and a tendency to develop osteomyelitis. Also called ivory bones, marble bones, osteosclerosis fragilis. See also Albers-Schönberg disease.osteopetrotic, adj.

Osteopetrosis (Regezi, Sciubba, and Jordan, 2012)