Osteogenesis imperfecta Typ 4

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.

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.

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.

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.

Osteogenesis

imperfecta type II. Type IV OI in an adult patient Note spontaneous fracture at the left femoral diaphysis and dense metaphyseal bands in the distal femur (arrow) and proximal tibia due to bisphosphonate treatment.

Osteogenesis

imperfecta type II. Table showing the different types of OI according to the Sillence and Glorieux classification and most characteristic (imaging) features.