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27 December 2023: Articles

Discrepancies in the Phenotypical Classification of Osteogenesis Imperfecta in a Patient with COL1A2 Mutation: A Case Report

Unusual clinical course, Rare disease, Congenital defects / diseases

Olena Mahneva A , Vanessa Victor-Linkenhoker A*

DOI: 10.12659/AJCR.942239

Am J Case Rep 2023; 24:e942239

Figure 1. Fifteen views according to a standard skeletal survey. There was some osteopenia that most notably involved the calvarium with thin calvarial inner and outer table involving the parietal and temporal bones, with some sparing of the frontal and occipital bones. It was difficult to discern fractures in areas of abnormal irregular calvarial ossification. There was a healing left posterior ninth rib fracture; the first through sixth posterior ribs appeared thin and gracile. Metaphyseal irregularities of the right distal radius, ulna, and proximal humerus had some sclerosis and irregularity consistent with healing fractures. Additional lucency at the distal left radius laterally was without significant healing changes at the time of the imaging. There was an irregularity to the proximal left humeral metaphysis with some sclerosis consistent with a healing fracture. There was a bowing deformity of the bilateral femoral shaft with irregular metaphyseal contours, which were ill-defined and had some areas of sclerosis involving the proximal and distal femur bilaterally as well as the proximal tibia (left greater than right).

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923