Miscellaneous findings (n=109, number affected in brackets)
| Hypertension | 8% (7) |
|---|---|
| Hypothyroidism | 3% (3) |
| Dermatological markings (eg multiple pigmented naevi) | 22% (20) |
| Talipes equinovarus | 3% (3) |
| Anal stenosis | 3% (3) |
| Hirschsprung disease | 2% (2) |
| Grand mal epilepsy | 4% (4) |
| Cholecystectomy for gallstones | 3% (3) |
| Hysterectomy for menorrhagia/endometriosis | 3% (3) |
| Joint laxity | >5% (5) |
| Rhabdomyosarcoma | <1% (1) |
| IgG subclass deficiency | <1% (1) |
| Myoclonic epilepsy (diagnosed as Lefora body disease) | <1% (1) |