A Familial Osteopetrosis / 대한정형외과학회잡지

ABSTRACT

Osteopetrosis is a very rare bone dysplasia characterized by failure of resorption and persistence of calcified chondroid and primitive bone. In 1904 Albers-Schonberg first described the radiological appearance of marble bone. This is named osteopetrosis by Karshner in 1926. A fulminating form is manifested from birth in which fractures and deformity, hydrocephalus and cranial nerve palsies lead to early death from intractable anemia and intercurrent infection. In other cases the stigmata are delayed until later childhood, when retardation of growth and of mental and sexual development occurs, and not infrequently accompanied by rickets, dental caries and osteomyelitis. We have experienced a familial osteopetrosis, father and three siblings, which was thought to be a autosomal dominant inheritance. One of those family, 20 years old man, has been complained of anemia and low back pain without radiating pain to the lower extremities. The other 3 patients has not been complained of any other clinical symptoms. But X-Ray examination of the entire skeletal survey of those members of the family have revealed the uniform opacity of long bones and flat bones.