Table 2 Overview of the phenotypic presentation in this cohort and the patients reported in literature
From: Arterial tortuosity syndrome: 40 new families and literature review
This series | Literature | Total | ||
|---|---|---|---|---|
Patients ( n =50) | Patients ( n =52) | Probands ( n =78) | Patients ( n =102) | |
M/F ratio | 27/22 (54%/44%) | 29/22 (56%/42%) | 45/30 (58%/38%) | 56/44 (55%/43%) |
Parental consanguinity | 24/48 (50%) | 31/51 (61%) | 35/75 (47%) | 55/99 (56%) |
Craniofacial | ||||
Aged appearance | 13/35 (37%) | 6/25 (24%) | 11/41 (27%) | 19/60 (32%) |
Long face | 32/49 (65%) | 35/43 (81%) | 51/64 (80%) | 67/92 (73%) |
Hypertelorism | 14/35 (40%) | 9/47 (19%) | 13/68 (19%) | 23/82 (28%) |
Downslanting palpebral fissures | 25/44 (64%) | 13/47 (28%) | 21/65 (32%) | 38/91 (42%) |
Beaked nose | 22/45 (49%) | 11/45 (24%) | 27/62 (44%) | 33/90 (37%) |
Cleft palate/bifid uvula | 4/47 (9%) | 3/49 (6%) | 3/66 (5%) | 7/96 (7%) |
High arched palate | 29/44 (66%) | 14/43 (32%) | 31/59 (53%) | 43/87 (49%) |
Micrognathia | 23/45 (51%) | 29/45 (64%) | 35/65 (54%) | 52/90 (58%) |
Sagging cheeks | 27/49 (55%) | 24/46 (52%) | 37/62 (60%) | 51/95 (54%) |
Ocular | ||||
Keratoconus | 3/38 (8%) | 5/17 (29%) | 6/38 (15%) | 8/55 (15%) |
Keratoglobus | 0/38 (0%) | 2/17 (12%) | 2/38 (5%) | 2/55 (4%) |
Myopia | 15/36 (42%) | 8/17 (47%) | 17/39 (44%) | 23/53 (43%) |
Cutaneous | ||||
Velvety texture | 26/41 (63%) | 12/45 (27%) | 28/51 (55%) | 38/86 (44%) |
Thin skin | 17/43 (40%) | 5/42 (12%) | 15/50 (30%) | 22/85 (26%) |
Hyperextensible skin | 27/46 (50%) | 29/46 (63%) | 41/55 (75%) | 56/92 (61%) |
Cutis laxa | 21/41 (51%) | 6/46 (13%) | 20/63 (32%) | 27/87 (31%) |
Skeletal | ||||
Pectus deformity | 17/45 (38%) | 9/47 (19%) | 20/67 (30%) | 26/92 (28%) |
Scoliosis | 12/44 (27%) | 8/46 (17%) | 12/65 (18%) | 20/90 (22%) |
Arachnodactyly | 15/47 (32%) | 13/45 (29%) | 16/66 (24%) | 28/93 (30%) |
Joint laxity | 36/42 (86%) | 36/53 (68) | 51/72 (71%) | 72/95 (76%) |
Joint pain | 8/32 (21%) | 2/37 (5%) | 6/48 (13%) | 10/69 (26%) |
Cardiovascular | ||||
Aortic tortuosity | 37/41 (90%) | 46/49 (94%) | 65/70 (93%) | 83/90 (92%) |
Tortuosity of other arteries | 38/42 (90%) | 35/49 (71%) | 68/72 (94%) | 73/91 (80%) |
Abnormal implantation of the aortic branches | 6/42 (14%) | 5/46 (11%) | 10/67 (15%) | 11/88 (13%) |
Aortic root aneurysm | 9/42 (21%) | 5/48 (10%) | 9/66 (14%) | 14/90 (16%) |
Other arterial aneurysms | 8/37 (22%) | 3/50 (6%) | 7/65 (11%) | 11/87 (13%) |
Arterial dissections | 0/37 (0%) | 0/50 (0%) | 0/64 (0%) | 0/87 (0%) |
Stenosis of the pulmonary arteries | 23/42 (55%) | 29/49 (59%) | 42/68 (62%) | 52/91 (57%) |
Aortic stenosis | 11/41 (27%) | 11/49 (22%) | 17/67 (25%) | 22/90 (24%) |
Other stenoses | 10/38 (26%) | 2/43 (5%) | 9/60 (15%) | 12/81 (15%) |
Other manifestations | ||||
Diaphragmatic hernia | 11/32 (34%) | 8/33 (24%) | 15/42 (36%) | 19/65 (29%) |
Inguinal hernia | 19/45 (42%) | 16/47 (34%) | 27/65 (42%) | 35/92 (38%) |
Respiratory symptoms | 7/45 (16%) | 3/22 (14%) | 15/74 (20%) | 10/67 (15%) |
Urogenital abnormalities | 8/37 (22%) | 3/19 (16%) | 8/41 (20%) | 11/56 (20%) |
Autonomic dysfunction | 5/31 (16%) | 6/26 (23%) | 5/37 (14%) | 10/57 (18%) |
