Oro-dental characteristics of LDS-causing mutations
|
TGFBR1
(LDS1) |
TGFBR2
(LDS2) |
SMAD3
(LDS3) |
TGFB2
(LDS4) |
TGFB3
(LDS5) | Total | |
| Number of patients | n=15 | n=14 | n=3 | n=7 | n=1 | n=40 |
| Abnormal palate | 15 (100.0) | 13 (92.8) | 0 (0.0) | 5 (71.4) | 1 (100.0) | 34 (85.0) |
| Retrognathic mandible | 14 (93.3) | 13 (92.8) | 2 (66.7) | 4 (57.1) | 0 (0.0) | 33 (82.5) |
| Enamel defects | 7 (46.7) | 10 (71.4) | 2 (66.7) | 3 (42.8) | 0 (0.0) | 22 (55.0) |
| Class II malocclusion | 8 (53.3) | 9 (64.2) | 2 (66.7) | 3 (42.8) | 0 (0.0) | 22 (55.0) |
| Gingivitis | 9 (60.0) | 9 (64.2) | 1 (33.3) | 0 (0.0) | 1 (100.0) | 20 (50.0) |
| Submucosal cleft or abnormal uvula | 6 (40.0) | 9 (64.3) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 15 (37.5) |
| TMJ abnormality | 6 (40.0) | 5 (35.7) | 1 (33.3) | 1 (14.3) | 1 (100.0) | 14 (35.0) |
| Deep bite | 6 (40.0) | 5 (38.5) | 0 (0.0) | 1 (14.3) | 1 (100.0) | 13 (33.3) |
| Dental crowding | 1 (6.7) | 3 (21.4) | 2 (66.7) | 1 (14.3) | 0 (0.0) | 7 (17.5) |
| Delayed eruption | 0 (0.0) | 4 (28.5) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 4 (10.0) |
Frequencies of each phenotype are mentioned along with the percentage within the category in parenthesis. Frequencies higher than 50% are bolded.
LDS, Loeys-Dietz syndrome; TMJ, temporomandibular joint.