J Korean Orthop Assoc.  1976 Sep;11(3):483-488. 10.4055/jkoa.1976.11.3.483.

A Familial Osteopetrosis

• Kim ID
• Lee SY
• Ihin JC
• Paik YH

• KMID: 2461296
• DOI: http://doi.org/10.4055/jkoa.1976.11.3.483

Abstract

Osteopetrosis is a very rare bone dysplasia characterized by failure of resorption and persistence of calcified chondroid and primitive bone. We have experienced: a familial osteopetrosis, father and three siblings out of seven, which was thought to be a autosonal dominant inheritance. One of those family, 18 years old body, has been complained of low back pain without radiating pain to the lower extremities. No other clinical symptoms has manifested. The other 3 patients has not been complained of any clinical symptom, 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. The normal architecture was altered, with no distinction between cortical and cancellous bone in all long bones. Histologic picture have noted the irregular patches of immature chondro-osseous tissue embedded in the matrix of coarse fiber bone with a wide and prominent cement line.

MeSH Terms

Bone Diseases, Developmental
Clothing
Fathers
Humans
Low Back Pain
Lower Extremity
Osteopetrosis*
Siblings
Wills