Brittle bone disease (osteogenesis imperfecta): a rare condition

Abstract

Osteogenesis imperfecta is a rare genetic disorder also known as a brittle bone disease with a prevalence of 1 in 10,000 the common clinical features of the disease include hearing loss, blue sclera, white eyes, and short stature other severe complications may include pulmonary valve insufficiency. The main causative agent for the condition is poorly formed type I collagen fiber which is due to the mutation of COL1A1 or COL1A2 genes this mutation may be hereditary. The diagnosis is usually done by radiological findings, other conditions having similar clinical findings are rickets, osteomalacia, and idiopathic juvenile osteoporosis. And the available treatment strategies consist of maintaining a healthy lifestyle, avoiding smoking, avoiding high-impact activities, and a well-structured physical therapy regimen. Here we present an 11-year-old boy who came to the orthopedic department with a complaint of pain with an abnormal curve in the lower limb (A, B) as mentioned by the mother the natal history was normal with no complications the baby was born with full-term normal delivery (C) shows the fracture at the distal third tibia, which is then corrected by open reduction and internal fixation, (D) shows the postoperative X-ray of the individual. After surgery, the individual was started with a physical therapy session which includes gradual strengthening of the musculature, patient and parent education regarding the condition, and joint protection techniques were taught, and eventually, ambulation was initiated.