Congenital Orthopedic Disease

Osteogenesis imperfecta
A 30 years old female patient who has a history of osteogenesis imperfecta was admitted with a fracture of left femoral shaft.
Solomon et al (2005: 77) states that fractures occur throughout life but severe deformity is uncommon. Old fractures are usually evident and there may be some bowing of the long bones.
She had an internal fixation by intermedullary nailing. Post- operatively management were prevention of pressure sore, monitor and relieve pain, hydration and electrolyte balance, prevention of DVT or PE by giving thrombolytic therapy e.g. clexane , teds stockings , early mobilization of physiotherapy , prevention of constipation and prevention of infection on wound site. After a week, patient has been discharged to home after clearance from Orthopaedic team and allied health staff e.g. physio and occupational therapists.
McRae and Esser (2008:324) In the adult, internal fixation by intermedullary nailing is the commonest method of treatment. The prime advantage this has to offer is that it generally permits early mobilization of the patient, thereby lessening the risks of pulmonary, circulatory, renal, joint and other complications, while promoting muscle activity, joint movements and functional recovery.
Impacts of this disorder to the patient is the involvement of the bones, ligaments, sclerae and skin. The most evident is having an extremely fragile or brittle bones. All people with Osteogenesis imperfecta have weak bones, which makes them susceptible to fractures. Because of the different types of this disorder, one of them affects the ligaments that causes to have loose joints and flat feet. Some types also lead to the development of poor teeth. One of the other symptoms especially for children is having a blue sclera in a milder type but becomes normal when they reach adult life.
Unfortunately, no cure has been developed yet to cure this disorder . But exact therapies has been suggested to alleviate pain and complications associated with osteogenesis imperfect. Some of them are encouraged to do low impact exercises like swimming to keep the muscles and bones strong. Another treatment are reconstructive surgeries to correct some deformities. Bracing might also be helpful to some people. In some critical cases, surgeries like placing metal bones in the long bones are being done to prevent any fractures or if it occurs then internal fixation by intermedullary nailing is performed.Reference:
Mcrae, R. and Esser, M., 2008 Practical fracture treatment. 5th edn. Churchill Livingstone Elsevier, Sydney.
Solomon, L., Warwick, D.,Nayagam, S.2005 Apley??™s Concise system of Orthopaedics and fractures. 3rd edn. Hodder Arnold, United Kingdom.

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