Review article
Osteogenesis imperfecta type III – a short review and an example of personalized surgery approach
Dragan Primorac
; St. Catherine Specialty Hospital, Zabok/ Zagreb, Croatia
Željko Jeleč
; University North, Varaždin, Croatia
Darko Antičević
; St. Catherine Specialty Hospital, Zabok/ Zagreb, Croatia
Vid Matišić
; St. Catherine Specialty Hospital, Zabok/ Zagreb, Croatia
Vilim Molnar
; St. Catherine Specialty Hospital, Zabok/ Zagreb, Croatia
Abstract
Osteogenesis imperfecta (OI) or brittle bone disease, a heritable disorder of connective tissue, is the most common of
the inherited disorders primarily affecting bone. There are approximately 400 individuals with OI in Croatia alone.
The basis of this disease in European populations is mostly the result of defects in the structure or processing of
collagen type I, an important protein of the extracellular matrix in many tissues. Although fractures occurring with
no injury or minor injury are the hallmark of OI, other non-mineralized tissues can be affected as well. Four different
types of the disease are commonly distinguished, ranging from a mild condition (type I) to a lethal one (type II). Types
III and IV patients present with severe forms. Due to the relatively low prevalence in the general population, treating
physicians have limited experience with this disease, both with children or adults. As an example of personalized
surgery approach, we present an 11-year-old patient with OI type III. Before referral to our hospital, she was treated
with 18 cycles of bisphosphonates as well as with several different surgical procedures. The patient underwent two
surgeries at our hospital with a 5-month interval between them. Using the Fassier-Duval intramedullary telescoping
nail, correction osteotomies of both femurs and lower legs in two separate settings were performed, with a very good
final result.
Keywords
osteogenesis imperfecta, orthopedics, pediatrics, personalized medicine
Hrčak ID:
270504
URI
Publication date:
28.3.2021.
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