Cohort 1 (n = 10) % (n) | Cohort 2 (n = 23) % (n) | Literature patients (n = 59) % (n) | |
---|---|---|---|
Neurological findings | |||
Age | 38 [14–66] | 16 [1–60] | 15 [0–71] |
Seizures | 50% (5/10) | 70% (16/23) | 46% (26/56) |
Mega cisterna magna | 29% (2/7) | 25% (5/20) | 31% (14/45) |
Cardiovascular findings | |||
Aortic dilation/aneurysm | 90% (9/10) | 67% (10/15) | 51% (27/53) |
Pulmonary artery dilation/PAH | 38% (3/8) | 20% (2/10) | 39% (18/46) |
Aortic valve dysfunction | 44% (4/9) | 50% (10/20) | 20% (10/50) |
Mitral valve anomalies | 67% (6/9) | 11% (2/18) | 41% (19/46) |
Tricuspid valve anomalies (Prolapse, dysplasia) | 11% (1/9) | 6% (1/16) | 25% (11/44) |
Bicuspid aortic valve | 0% (0/8) | 29% (5/17) | 3% (1/39) |
PDA | 0% (0/8) | 27% (3/11) | 41% (21/51) |
VSD/ASD | 22% (2/9) | 100% (2/2) | 27% (13/48) |
Early-onset varicose veins | 33% (3/9) | 36% (4/11) | 100% (1/1) |
Arterial tortuosity | 11% (1/9) | 0% (0/5) | 60% (3/5) |
Arterial aneurysm/dissection | 11% (1/10) | 18% (2/11) | 60% (3/5) |
Connective tissue disorder features | |||
Joints hyperlaxity (JHL) | 70% (7/10) | 53% (9/17) | 73% (29/40) |
Skin hyperelasticity (SHE) | 44% (4/9) | 33% (5/15) | 42% (14/33) |
Spontaneous or easily bruising | 38% (3/8) | 23% (3/13) | 24% (4/17) |
Cutaneous fragility (scar) | 38% (3/8) | 8% (1/12) | 63% (10/16) |
Wall hernia | 11% (1/9) | 20% (3/15) | 53% (9/17) |
Gastro-intestinal problems | 13% (1/8) | 17% (2/12) | 63% (12/19) |
Emphysema | 44% (4/9) | 7% (1/15) | 58% (19/33) |
PNO | 0% (0/10) | 0% (0/16) | 20% (2/10) |
Scoliosis | 60% (6/10) | 28% (5/18) | 18% (3/17) |
Pectus carinatum/excavatum | 0% (0/10) | 0% (0/16) | 25% (4/16) |