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Table 2 Records including information on diagnosis in individuals with OI

From: The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

 

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

  1. DEXA, dual-energy x-ray absorptiometry