engleski

Personalized surgery approach in severe form of osteogenesis imperfecta type III: point of view

Osteogenesis imperfecta (OI) is a genetic disorder characterized by fragile bones. It is our aim to illustrate variability in clinical presentation of severe form of OI. As an example of personalized surgery approach we present an 11-year-old girl with OI type III. Prior to referral to our hospital, she was treated with 18 cycles of bisphosphonates as well as with several different surgical procedures. Due to no improvement in her mobility status she underwent two additional surgeries at our hospital with a 5-month interval between them. Prior to the surgery, molecular genetic analysis was performed and the clinical diagnosis of OI was confirmed. Using the Fassier- Duval intramedullary telescoping nail, we performed correction osteotomies of both femurs and lower legs in two separate settings, with a very good final result. According to our experience, the Fassier–Duval nailing system is good option, but one should pay attention to many details while performing surgery. Thus, making treatment of OI patients very personalized. In this paper we present a unique personalized approach in OI: firstly, diagnosing COL1A1 gene mutations and secondly, performing a complex twopart surgery.

osteogenesis imperfecta, personalized approach, point of view

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