ST. CATHERINE HOSPITAL IS “THE CENTER OF EXCELLENCE” FOR SURGICAL TREATMENT OF OSTEOGENESIS IMPERFECTAOsteogenesis ImperfectaOsteogenesis
imperfecta or brittle bone disease, a heritable disorder of connective
tissue, is the most common of the inherited disorders primarily
affecting bone. It is estimated that the prevalence of OI is 1 in
15,000–20,000 infants.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. Osteogenesis Imperfecta – Diagnosis and testingCollagen
analysis from a skin sample and/or DNA sequencing from a blood sample
may confirm a clinical diagnosis. St. Catherine Hospital and its
partners are providing genetic testing of OI.General Treatment of Patients with Osteogenesis ImperfectaThere
is not yet a cure for OI. Treatment is directed toward preventing or
controlling the symptoms, maximizing independent mobility, and
developing optimal bone mass and muscle strength. Care of fractures,
extensive surgical and dental procedures, and physical therapy are often
recommended for people with OI. Use of wheelchairs, braces, and other
mobility aids is common, particularly (although not exclusively) among
people with more severe types of OI.Orthopedic Management of Patients with Osteogenesis ImperfectaOur
orthopedic team is having more than 25 years of experience in treating
patients with OI and currently we are performing more procedures that
any other hospital in the region. Orthopedic i.e. surgical treatment of
fractures and deformities of lower extremity long bones is mainstay of
lifelong management. Corrective surgery is crucial for ambulation due to
the fact that bowed long bone soon will be fractured on the apex of
bow. Amon all other orthopedic procedure our team is using the third
generation of telescoping rods is Fassier-Duval (F-D) rod which has the
advantage of percutaneous insertion with minimal soft tissue trauma.
Specific construction of the F-D rod enables avoiding of knee and/or
ankle joint arthrotomy. Telescoping rods are intra-medullary implants
which are keeping long bone straight and preventing fractures and one
should consider intra-medullary rods as internal splints. Literature:1.Jeleč
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Medicine Approach in Diagnosing and Treating a Patient with Osteogenesis
Imperfecta Type III – Case Report. Book of Abstracts. The Tenth ISABS
Conference on Forensic and Anthropologic Genetics and Mayo Clinic
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