Table 2.
Records including information on diagnosis in individuals with OI
| 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] | x | ||||||||
| Arponen [158] | x | ||||||||
| Arponen, Mäkitie [154] | x | ||||||||
| Aubry-Rozier, Richard [35] | x | x | x | x | |||||
| Bellur, Jain [40] | x | x | |||||||
| Binh, Maasalu [90] | x | ||||||||
| Brizola, Zambrano [153] | x | x | x | ||||||
| Castro, Santos [89] | x | x | |||||||
| Cubert, Cheng [236] | x | x | x | ||||||
| Dar, Khalily [29] | x | x | |||||||
| Greeley, Donaruma-Kwoh [117] | x | x | x | ||||||
| Hagberg, Lowing [33] | x | x | x | ||||||
| Jain, Tam [174] | x | ||||||||
| Kok, Sakkers [165] | x | ||||||||
| Liu, Asan [237] | x | ||||||||
| Martin, Haney [102] | x | ||||||||
| Moreira, Gilbert [42] | x | ||||||||
| Narayanan, Dougan [34] | x | x | |||||||
| Oduah, Firth [85] | x | ||||||||
| Ohata, Takeyari [121] | x | x | |||||||
| Patel, Nagamani [123] | x | ||||||||
| Pinheiro, Barrios [184] | x | ||||||||
| Rauch, Lalic [134] | x | ||||||||
| Rusinska and Michalus [86] | x | ||||||||
| Rusinska, Jakubowskapietkiewicz [155] | x | x | x | ||||||
| Sepúlveda, Terrazas [32] | x | x | |||||||
| Simoes, Fernandes [228] | x | ||||||||
| Song, Zhao [163] | x | ||||||||
| Stewart, Raja [30] | x | x | |||||||
| Tabanfar [101] | x | x | x | ||||||
| Tosi, Floor [212] | x | x | |||||||
| Tosi, Floor [106] | x | x | x | ||||||
| Vyskocil and Pavelka [238] | x | x | x | x | |||||
| Wekre, Frøslie [31] | x | x | |||||||
| Yimgang, Brizola [46] | x | ||||||||
| Youngblom, Murray [239] | x | x | x | x | x |
DEXA, dual-energy x-ray absorptiometry