Feature | Percentage |
Bowel obstruction in infancy | 16 |
Chronic constipation in childhood | 41 |
Perianal sepsis | 11 |
Renal/urinary tract problems | 35 |
Gynaecological malformation | 19 females |
Meningitis | 11 |
Spinal cord tethering | 14 |
Anterior meningocele | 50 |
Presacral mass other (eg teratoma/ lipoma/cyst) | 42 |
Asymptomatic | 331-150 |
↵1-150 Asymptomatic subjects often have visible sacral defects onx ray; 13/90 (14.4%) of the asymptomatic cohort in our own series had a visible sacral defect. In only two cases was a mutation detected in an asymptomatic subject with no signs onx ray.