Naslov
Acetabular protrusion- underestimated but frequent deformity in patients with osteogenesis imperfecta

Autori
Antičević, Darko ; Jeleč, Željko ; Primorac, Dragan

Izvornik
Journal of Bioanthropology (2787-820x) 2 (2022), 1; 301-301

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kratko priopcenje, stručni

Ključne riječi
osteogenesis imperfecta ; acetabular protrusion ; treatment ; prevention

Sažetak
Introduction. Acetabular protrusion (AP) is common deformity in people with osteogenesis imperfecta (OI) or brittle bone disease, a genetic disease of the connective tissues caused mainly by mutations in collagen type I. Clinical features of OI are brittle bones, low-energy fractures, skeletal deformities, joint laxity, blue sclerae, dentinogenesis imperfecta, cardiovascular and respiratory problems and hearing loss. Research on AP in OI is limited. However, AP is found in about 50% of people with OI, with even increase to 70% in people with OI type III. The purpose of this text is to grew attention to this frequently unrecognized deformity. Methods and materials. We reviewed recently published articles in orthopaedic literature and compared data from literature with data on patients with OI treated in our hospital in the last five years (2016. – 2021.). Radiographs of hips and pelvis in our 17 patients (10 females and 7 males) were reviewed. Literature review has shown that AP is predominantly responsible for gastrointestinal problems and for increased risk for proximal femoral fractures and particularly for femoral neck fractures in OI population. Results. We found one patient with OI type I, thirteen patients with OI type III ; two patients with OI type IV and one patient with X-linked type OI. In our cohort, 65% of our patients with OI type III had AP of some degree. Three adult patients had significant AP as measured according to Kohler line. Two of them had mechanical obstruction constipation as gastro- intestinal complication of AP and this was resolved with dietary adjustments. No patients had femoral neck fracture, so far. This could be explained that majority of our patients were children and had limited ambulation prior long bone corrective surgery with expandable intra- medullary implants. There are single case reports of technical surgical problems in urologic prostate surgery due to AP in adult patient with OI type I, as well as carcinoma of left colon presenting as mechanical obstruction in a patient with osteogenesis imperfecta type III. Conclusion. Further research in OI connected with AP is needed. In multidisciplinary management approach for paediatric and adult patients with OI one should not underestimated deformity of pelvic bones, AP in particular, as there are significant potential problems that can affect quality of life in this population.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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