Naslov
Osteogensis imperfecta : a current overview of musculoskeletal radiology and new genetic concepts

Autori
Antičević, Darko ; Zergollern-Čupak, Ljiljana ; Janković, Stipan ; Potočki, Krunoslav ; Barišić, Ingeborg ; Huzjak, Nevenka ; Bosnar, Alan ; Anđelinović, Šimun ; Ivkošić, Ante ; Primorac, Dragan

Izvornik
Acta clinica Croatica (0353-9466) 41 (2002); 101-111

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, ostalo

Ključne riječi
osteogenesis imperfecta

Sažetak
Osteogenesis imperfecta is genetically and clinically heterogeneous disorder of bone and connective tissue characterized by osteoporosis, fragile bones, hyperextensible joints, dentinogenesis imperfecta, bluish coloration of the sclerae, and adult-onset hearing loss. Medical histroy, careful physical examination, radiographic reatures of fractures, and biochemical analyisis of skin collagen are the four cornerstones of accurate diagnosis. As osteogenesis imperfecta affects the whole skeleton, radiologic diagnostic features could be seen on any bone at any age of the patient. A radiology specialist should be aware of sublte changes seen on radiographs of axial skeleton (i.e. skull, spine and pelvic bones) and appendicular skeleton (i.e. long and short bones of extremities) as well as of specific osteogensis features (i.e. "popcorn" calcifications) and difficult differential diagnosis (i.e. hypertrophic calus formation versus osteosarcoma ; child abuse fracures versus true osteognesis imperfecta). About 300 different mutations have been identified within COL1A1 and COL1A2 genes that encode the chains of type I collagen. More than 90% of these are heterozygous single base pair mutations unique to the affected individuals within families. Depending on the location of the mutation within the collagene gene, these produce a variety of clinical pictures wihic range from mild (OI type 1), lethal (OI type 2)to severely deforming (OI type 3) and mildly deforming (OI type 4). Eache of the four types has a common radiologic appearance that helps in establishing the diagnosis. However, recent findings have confirmed that new genes other than type I collagen could be responsible for three new types of OI (OI type 5 ; OI type 6 and rhizomelic OI). Here we describe the compelexity of the phenotype-genotype correlation in OI, and the recently proposed new classification.

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita

POVEZANOST RADA