Sanakirja
Tekoälykääntäjä
Kuvat 22

Käännöksiä ei löytynyt valitulle kohdekielelle.

Määritelmät

Substantiivi

  1. (pathology) Synonym of osteogenesis imperfecta.

(pathology) Synonym of osteogenesis imperfecta.

X-ray of a 24-year-old American man, who had suffered more than one hundred bone fractures in his lifetime, and received a childhood clinical diagnosis of type IVB OI. Genetic diagnosis in 2018 identified a previously uncatalogued pathogenic variant in the gene which encodes proα2(I) chains of type I procollagen, COL1A2, at exon 19, substitution c.974G>A. Due to childhood neglect and poverty, subject never received surgery to implant intramedullary rods. Malunions are evident as the humerus and femur were broken in adolescence but orthopedic care did not follow. Severe scoliosis, as well as kyphosis, are also evident. The unavoidably low contrast in the film is due to a combination of subject's obesity and low bone mineral density (BMD). Subject's BMD Z-score was -4.1 according to results of a dual-energy X-ray absorptiometry (DXA) scan also done in 2018. This X-ray is of the left forearm and also shows most of the left upper arm and part of the left hand.

(pathology) Synonym of osteogenesis imperfecta.

X-ray of a 24-year-old man clinically diagnosed with Type IVB OI. Genetic diagnosis in 2018 resulted in no identifiable type, but identified a previously uncataloged pathogenic variant in the gene which encodes proα2(I) chains of type I procollagen, COL1A2, at exon 19, c.974G>A. Due to childhood neglect, subject never received rodding surgeries, and there is also evidence the femur was broken and not set properly in a hospital, causing a malunion. Severe scoliosis is also evident. The unavoidably low contrast in the film is due to a combination of subject's obesity and poor bone density.

(pathology) Synonym of osteogenesis imperfecta.

X-ray of a 24-year-old man clinically diagnosed with Type IVB OI. Genetic diagnosis in 2018 resulted in no identifiable type, but identified a previously uncataloged pathogenic variant in the gene which encodes proα2(I) chains of type I procollagen, COL1A2, at exon 19, c.974G>A. Due to childhood neglect, subject never received rodding surgeries, and there is also evidence the femur was broken and not set properly in a hospital, causing a malunion. Severe scoliosis is also evident. The unavoidably low contrast in the film is due to a combination of subject's obesity and poor bone density.