Table 2.
Clinical features in patients with Marfan or Loeys–Dietz syndrome and a clinically relevant variant.
| Features | Marfan syndrome (n = 63) | Loeys–Dietz syndrome (n = 9) |
|---|---|---|
| Ocular manifestations | ||
| Myopia | 32/53 (60%) | 1/8 (12%) |
| Ectopia lentis | 26/53 (49%) | 0/8 |
| Early cataract | 05/53 (9%) | 0/8 |
| Astigmatism | 03/53 (5%) | 2/8 (25%) |
| Microspherophakia | 02/53 (3%) | 0/8 |
| Cardiovascular manifestations | ||
| Aortic root dilatation | 45/58 (77%) | 6/8 (75%) |
| Aortic regurgitation | 14/58 (24%) | 3/8 (37%) |
| Aortic aneurysma | 04/58 (6%) | 0/8 |
| Aortic dissection | 01/58 (1.7%) | 1/8 (12%) |
| Mitral valve prolapse | 39/58 (67%) | 5/8 (62%) |
| Tricuspid valve prolapse | 31/58 (53%) | 5/8 (62%) |
| Mitral regurgitation | 33/58 (56%) | 4/8 (50%) |
| Tricuspid regurgitation | 26/58 (44%) | 3/8 (37%) |
| Bicuspid aortic valve | 01/58 (1.7%) | 1/8 (12%) |
| Skeletal findings | ||
| Pectus abnormality | 25/53 (47%) | 7/8 (87%) |
| Scoliosis | 16/53 (30%) | 3/8 (37%) |
| Thumb sign | 36/51 (70%) | 3/8 (37%) |
| Wrist sign | 35/51 (68%) | 2/8 (25%) |
| Dolichostenomelia | 38/53 (71%) | 2/8 (25%) |
| Pes planus | 27/53 (50%) | 5/8 (62%) |
| Talipes deformity | 13/53 (24%) | 3/8 (37%) |
| Genu valgum/recurvatum | 05/53 (9%) | 1/8 (12%) |
| Reduced elbow extension | 07/53 (13%) | 0/8 |
| Camptodactyly | 19/53 (35%) | 1/8 (12%) |
| Long and narrow feet | 33/53 (62%) | 5/8 (62%) |
| Metatarsus adductus | 07/53 (13%) | 1/8 (12%) |
| Craniosynostosis | 0/53 | 2/8 (25%) |
| Facial features | ||
| Long and narrow face | 36/53 (67%) | 8/8 (100%) |
| High arched palate | 34/53 (64%) | 5/8 (62%) |
| Bifid uvula/cleft palate | 0/53 | 3/8 (37%) |
| Hypertelorism | 01/53 (5%) | 8/8 (100%) |
| Exotropia | 05/53 (9%) | 0/8 |
| Dolichocephaly | 10/53 (18%) | 2/8 (25%) |
| Enophthalmos | 15/53 (28%) | 0/8 |
| Downslanted palpebral fissures | 19/53 (35%) | 8/8 (100%) |
| Malar hypoplasia | 31/53 (58%) | 4/8 (50%) |
| Micro/retrognathia | 18/53 (33%) | 8/8 (100%) |
| Low-set ears | 16/53 (30%) | 2/8 (25%) |
| Crowding of teeth | 08/53 (15%) | 2/8 (25%) |
| Other features | ||
| Skin striae | 11/53 (20%) | 2/8 (25%) |
| Skin laxity | 06/53 (11%) | 1/8 (12%) |
| Pneumothorax | 06/53 (11%) | 0/8 |
| Dural ectasia | Not tested | Not tested |
| Hernia | 07/53 (13%) | 3/8 (37%) |
| Joint laxity | 11/53 (20%) | 4/8 (50%) |
| Translucent skin | 06/53 (11%) | 0/8 |
| Decreased muscle mass | 16/53 (30%) | 4/8 (50%) |
| Joint contractures | 02/53 (3%) | 1/8 (12%) |
| Developmental delay/mild intellectual disability/motor delay | 02/53 (3%) | 4/8 (50%) |
Numerator indicates the number of individuals with a clinical feature and denominator indicates the number of individuals where information is available for the given clinical feature.
aYounger individuals with Loeys–Dietz syndrome might not manifest with aortic aneurysm.