| Skin biopsy/ collagen analysis | Blood/ DNA analysis | Genetic test (general) | Clinical history and radiographs (general) | DEXA | Prenatal testing | Diagnostic pathway | Age of diagnosis | Misdiagnosis/ diagnostic uncertainty |
---|---|---|---|---|---|---|---|---|---|
Aarabi, Rauch [144] | Â | Â | Â | x | Â | Â | Â | Â | Â |
Arponen [158] | Â | Â | Â | x | Â | Â | Â | Â | Â |
Arponen, Mäkitie [154] |  |  |  | x |  |  |  |  |  |
Aubry-Rozier, Richard [35] | Â | x | Â | x | x | Â | x | Â | Â |
Bellur, Jain [40] | Â | Â | Â | Â | Â | x | Â | x | Â |
Binh, Maasalu [90] | Â | Â | Â | x | Â | Â | Â | Â | Â |
Brizola, Zambrano [153] | Â | Â | Â | x | Â | x | Â | x | Â |
Castro, Santos [89] | Â | Â | Â | x | Â | Â | Â | x | Â |
Cubert, Cheng [236] | Â | Â | Â | x | Â | x | Â | x | Â |
Dar, Khalily [29] | Â | Â | x | Â | Â | Â | Â | Â | x |
Greeley, Donaruma-Kwoh [117] | Â | Â | Â | x | Â | x | Â | x | Â |
Hagberg, Lowing [33] | Â | Â | x | x | x | Â | Â | Â | Â |
Jain, Tam [174] | Â | Â | x | Â | Â | Â | Â | Â | Â |
Kok, Sakkers [165] | Â | Â | Â | x | Â | Â | Â | Â | Â |
Liu, Asan [237] | Â | Â | Â | Â | Â | Â | Â | x | Â |
Martin, Haney [102] | Â | Â | Â | Â | x | Â | Â | Â | Â |
Moreira, Gilbert [42] | Â | Â | Â | Â | Â | Â | Â | Â | x |
Narayanan, Dougan [34] | Â | Â | Â | Â | x | Â | Â | x | Â |
Oduah, Firth [85] | Â | Â | Â | x | Â | Â | Â | Â | Â |
Ohata, Takeyari [121] | Â | Â | x | x | Â | Â | Â | Â | Â |
Patel, Nagamani [123] | Â | Â | x | Â | Â | Â | Â | Â | Â |
Pinheiro, Barrios [184] | Â | Â | Â | x | Â | Â | Â | Â | Â |
Rauch, Lalic [134] | Â | Â | x | Â | Â | Â | Â | Â | Â |
Rusinska and Michalus [86] | Â | Â | Â | Â | Â | Â | Â | Â | x |
Rusinska, Jakubowskapietkiewicz [155] | Â | Â | x | x | x | Â | Â | Â | Â |
Sepúlveda, Terrazas [32] |  |  |  | x |  |  |  | x |  |
Simoes, Fernandes [228] | Â | Â | x | Â | Â | Â | Â | Â | Â |
Song, Zhao [163] | Â | Â | Â | Â | Â | Â | Â | x | Â |
Stewart, Raja [30] | Â | Â | Â | Â | x | Â | x | Â | Â |
Tabanfar [101] | Â | Â | x | x | Â | Â | Â | Â | x |
Tosi, Floor [212] | x | x | Â | Â | Â | Â | Â | Â | Â |
Tosi, Floor [106] | x | x | Â | x | Â | Â | Â | Â | Â |
Vyskocil and Pavelka [238] | x | Â | Â | x | x | Â | x | Â | Â |
Wekre, Frøslie [31] |  |  |  |  |  |  | x | x |  |
Yimgang, Brizola [46] | Â | Â | Â | Â | Â | Â | Â | x | Â |
Youngblom, Murray [239] | x | Â | x | x | Â | Â | x | Â | x |