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. 2010 Feb 24;18(8):872–880. doi: 10.1038/ejhg.2010.23

Table 2. Proposed scoring system.

Characteristics Score
Retinal abnormalities 5
Positive family history 5
Vitreous abnormalities 4
Cleft palate 4
Retinal tear and/or detachment 3
Low nasal bridge 1
Micrognathia 1
   
Total score 23