Naslov
Orthopaedic management of the most common skeletal dysplasia

Autori
Antičević, Darko ; Đapić, Tomislav ; Barišić, Ingeborg

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Paediatria Croatica. Supplement 2 / Barišić, Ingeborg - Zagreb, 2009, 40-40

Skup
8th Balkan Meeting on Human Genetics

Mjesto i datum
Cavtat, Hrvatska, 14.05.2009. - 17.05.2009

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Orthopaedic management; Skeletal dysplasia

Sažetak
Aim of the study is to present current status of orthopaedic management of the skeletal dysplasias in Croatia. Patients with skeletal dysplasias represent a group of individuals with rare diseases. But, some specific skeletal dysplasias have orthopaedic problems through a whole life time. Methods. This report is focused on three genetic diseases which have spectrum of frequent orthopaedic problems i.e. osteogenesis imperfecta (OI), mucopolysaccharoidosis (MPS) and Down syndrome (DS). In our Department database we performed search for all patients with OI, MPS and DS who were surgically treated. We used example of case study to present specific orthopaedic problems in young patients with OI, MPS and DS. Results. We found twenty patients with OI, five patients with DS, and three patients with MPS who were surgically treated in our Department. In those patients musculoskeletal problems of specific anatomical regions were of progressive nature and were treated according to the newest advancement of surgical implants. Those implants are Fassier- Duval telescoping intramedullary (IM) nail, guided growth technique of Stevens (“ eight- plate” ), titanium elastic IM nails technique (Nancy). Conclusion. Patients with skeletal dysplasias who need surgical treatment should be concentrated in special centres where surgeons have sufficient experience and where the most appropriate implants are available.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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