From: Brittle cornea syndrome: recognition, molecular diagnosis and management
Feature | Observed in how many patients (and families) with ZNF469 mutations? | Observed in how many patients (and families) with PRDM5 mutations? |
---|---|---|
Ocular rupture | 16/19 (8 of 11 families) | 9/16 (5 of 8 families) |
CCT <400 μm | 12/12 (7 families) | 9/9 (4 families) |
Keratoconus/keratoglobus* | 8/12 (7 families) | Â |
Blue sclera | 19/19 (11 families) | 16/16 (8 families) |
Deafness | 7/17 (6 of 11 families) | 9/16 (3 of 8 families) |
Developmental dysplasia of the hip | 5/14 (4 of 10 families) | 4/16 (3 of 8 families) |
Scoliosis | 3/18 (2 of 7 families) | 3/16 (3 of 8 families) |
Small joint hypermobility | 12/19 (8 of 11 families) | 14/16 (7 of 8 families) |