Frequencya | |||||||
---|---|---|---|---|---|---|---|
Clinical features | Proband | Daughter | Boileau et al.[17] | Lindsay et al.[16] | Renard et al.[18] | Leutermann et al.[19] | Total/percentage |
Cardiovascular | |||||||
TAA or MPA | - | -c | 14/19 | 1/4 (11) | 4/6 | 2/2 (1) | 21/32 (13) 65% |
Aortic dissection | - | - | 2/19 | 1/15 | 2/6 | 0/3 | 5/45 11% |
Aortic repair | - | - | 4/19 | 3/15 | 0/6 | 2/3 | 9/45 20% |
Arterial tortuosity | + | N.A. | 3/5 (14) | 1/4 (11) | 1/1 (5d) | 2/2 (1) | 8/13 (32) 61.5% |
MV impaired | + | + | 3/19 | 7/10 (5) | 4/6 | 0/2 (1) | 16/39 (6) 41% |
Skeletal | |||||||
Tall statureb | - | + | 8/19 | 11/15 | N.A. | 2/2 (1) | 22/38 (7) 58% |
Pectus deformities | - | + | 7/16 (3) | 9/15 | 2/6 | 1/3 | 20/42 (3) 47.6% |
Arachnodactyly | - | + | 8/13 (6) | 8/15 | 2/6 | 0/2 (1) | 19/38 (7) 50% |
Joint hypermobility | + (BS 9/9) | + (BS 6/9) | 10/15 (4) | 7/15 (BS > 5/9) | 4/6 | 2/3 | 23/41 (4) 56% |
Chronic Pain | + | + | N.A. | N.A. | N.A. | N.A. | 2/2 (43) |
Scoliosis | + | + | 4/15 (4) | 5/15 | 1/6 | 3/3 | 15/41 (4) 36.5% |
Pes planus | - | - | 11/15 (4) | 8/15 | 1/6 | 2/2 (1) | 22/40 (5) 55% |
Club feet | - | - | 0/15 (4) | 5/15 | 1/6 | 0/2 (1) | 6/40 (5) 15% |
High arched palate | + | + | 9/15 (4) | 10/15 | 2/6 | 1/2 (1) | 24/40 (5) 60% |
Cutaneous | |||||||
Hyperelastic skin | + | + | 0/13 (6) | N.A. | N.A. | N.A. | 2/15 (30) 13% |
Defective scaring | - | + | N.A. | 2/15 | 1/6 | 0/2 (1) | 4/25 (20) 16% |
Easy bruising | + | + | N.A. | 5/11 (4) | N.A. | 0/2 (1) | 7/15 (30) 46.6% |
Striae distensae | + | - | 8/15 (4) | 3/15 | 1/6 | 0/2 (1) | 13/40 (5) 32.5% |
Hernia | + | - | 6/17 (2) | 10/15 | N.A. | 2/2 (1) | 19/36 (9) 52.7% |
Other | |||||||
Dural ectasia | + | N.A. | 3/5 (14) | 1/6 (9) | N.A. | 0/2 (1) | 5/14 (31) 35.7% |