Table 2

Oro-dental characteristics of LDS-causing mutations

TGFBR1
(LDS1)
TGFBR2
(LDS2)
SMAD3
(LDS3)
TGFB2
(LDS4)
TGFB3
(LDS5)
Total
Number of patientsn=15n=14n=3n=7n=1n=40
Abnormal palate15(100.0)13(92.8)0 (0.0)5(71.4)1(100.0)34(85.0)
Retrognathic mandible14(93.3)13(92.8)2(66.7)4(57.1)0 (0.0)33(82.5)
Enamel defects7 (46.7)10(71.4)2(66.7)3 (42.8)0 (0.0)22(55.0)
Class II malocclusion8(53.3)9(64.2)2(66.7)3 (42.8)0 (0.0)22 (55.0)
Gingivitis9(60.0)9(64.2)1 (33.3)0 (0.0)1(100.0)20 (50.0)
Submucosal cleft or abnormal uvula6 (40.0)9(64.3)0 (0.0)0 (0.0)0 (0.0)15 (37.5)
TMJ abnormality6 (40.0)5 (35.7)1 (33.3)1 (14.3)1(100.0)14 (35.0)
Deep bite6 (40.0)5 (38.5)0 (0.0)1 (14.3)1(100.0)13 (33.3)
Dental crowding1 (6.7)3 (21.4)2(66.7)1 (14.3)0 (0.0)7 (17.5)
Delayed eruption0 (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.