Osteogenesis imperfecta – Više-sustavna, doživotna bolesti i njen utjecaj na obitelj

Translated title of the contribution: Osteogenesis imperfecta – Multi-systemic and life-long disease that affects whole family

Dragan Primorac, Darko Antičević, Ingeborg Barišić, Damir Hudetz, Alan Ivković

Research output: Contribution to journalReview article

8 Citations (Scopus)

Abstract

Osteogenesis imperfecta 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. It is estimated that twice that number is present, represented by individuals with mild OI in whom the diagnosis has not been made. Due to the relatively low number of patients in the general population, treating physicians have limited experience with this disease, either with children or adults. 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 of many tissues. Presently, molecular defects in 16 different genes have been discovered to result in at least one type of OI of which 14 are not COL1 mutation loci. Although fractures occurring with no injury or minor injury are the hallmark of OI, other non-mineralized tissues can be affected as well and the pathological changes can be present in skin, tendons, eyes, teeth and blood vessels. Clinical manifestations are very heterogeneous and numerous signs and symptoms such as blue sclera, deafness, abnormal teeth development, joint hypermobility, increased risk of hernias, capillary fragility, aneurysms etc. Although there is no cure for this disease, there are specific therapies that can reduce the pain and complications associated with OI. The purpose of this review is to provide a brief overview of the molecular basis of this disease, describe clinical presentations, as well as to present orthopaedic therapeutic modalities for the patients with OI.

Original languageUndefined/Unknown
Pages (from-to)767-772
Number of pages6
JournalCollegium Antropologicum
Volume38
Issue number2
StatePublished - Jan 1 2014

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Osteogenesis Imperfecta
Disease
Capillary Fragility
Tooth
Joint Instability
bone disease
Croatia
Sclera
deafness
Extracellular Matrix Proteins
Wounds and Injuries
Deafness
Hernia
Collagen Type I
Tendons
Connective Tissue
Population
Signs and Symptoms
Orthopedics
Aneurysm

All Science Journal Classification (ASJC) codes

  • Anthropology
  • Arts and Humanities (miscellaneous)

Cite this

Primorac, D., Antičević, D., Barišić, I., Hudetz, D., & Ivković, A. (2014). Osteogenesis imperfecta – Više-sustavna, doživotna bolesti i njen utjecaj na obitelj. Collegium Antropologicum, 38(2), 767-772.
Primorac, Dragan ; Antičević, Darko ; Barišić, Ingeborg ; Hudetz, Damir ; Ivković, Alan. / Osteogenesis imperfecta – Više-sustavna, doživotna bolesti i njen utjecaj na obitelj. In: Collegium Antropologicum. 2014 ; Vol. 38, No. 2. pp. 767-772.
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Primorac, D, Antičević, D, Barišić, I, Hudetz, D & Ivković, A 2014, 'Osteogenesis imperfecta – Više-sustavna, doživotna bolesti i njen utjecaj na obitelj', Collegium Antropologicum, vol. 38, no. 2, pp. 767-772.

Osteogenesis imperfecta – Više-sustavna, doživotna bolesti i njen utjecaj na obitelj. / Primorac, Dragan; Antičević, Darko; Barišić, Ingeborg; Hudetz, Damir; Ivković, Alan.

In: Collegium Antropologicum, Vol. 38, No. 2, 01.01.2014, p. 767-772.

Research output: Contribution to journalReview article

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T1 - Osteogenesis imperfecta – Više-sustavna, doživotna bolesti i njen utjecaj na obitelj

AU - Primorac, Dragan

AU - Antičević, Darko

AU - Barišić, Ingeborg

AU - Hudetz, Damir

AU - Ivković, Alan

PY - 2014/1/1

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Primorac D, Antičević D, Barišić I, Hudetz D, Ivković A. Osteogenesis imperfecta – Više-sustavna, doživotna bolesti i njen utjecaj na obitelj. Collegium Antropologicum. 2014 Jan 1;38(2):767-772.