Table 1 Clinical information of patients with Currarino syndrome
From: Novel MNX1 mutations and genotype–phenotype analysis of patients with Currarino syndrome
Family No. | Case No. | Sex | Agea | Sacral anomaly | Anorectal malformation (ARM) | Presacral mass | Other signs | Familial/ sporadic caseb |
|---|---|---|---|---|---|---|---|---|
1 | 1 | F | 1 yr | Sacral agenesis (NA) | Anorectal stenosis | Teratoma | – | S |
2 | 2 | F | 3 yr | Sacral agenesis (NA) | Rectal perineal fistula | – | – | S |
3 | 3 | F | 3 m | Sacral agenesis (NA) | Rectovestibular fistula | Teratoma | – | S |
4 | 4 | F | 6 yr | Sacral agenesis (NA) | Anorectal stenosis | Teratoma | – | S |
5 | 5 | M | 1 yr | Sacral agenesis (NA) | Anorectal stenosis | Cystic formation | – | F |
6 | 6 | F | 5 yr | Coccygeal agenesis (type V) | Anorectal stenosis | Teratoma | – | F |
7 | F | 21 m | Partial sacrococcygeal agenesis (type III) | Rectal perineal fistula | – | Tethered cord, Myelomeningocele | F | |
7 | 8 | F | 3 yr | Partial sacrococcygeal agenesis (type III) | Rectal perineal fistula | Cystic formation | Tethered cord | F |
8 | 9 | F | 2 yr | Hemisacrum (type IV) | Anorectal stenosis | Teratoma | Meningocele, Tethered cord | S |
9 | 10 | F | 21 m | Sacral agenesis (NA) | Rectovestibular fistula | Teratoma | – | S |
10 | 11 | M | 9 m | Partial sacrococcygeal agenesis (type III) | Rectal perineal fistula | Teratoma | – | S |
11 | 12 | F | 2 m | Sacral agenesis (NA) | Rectal perineal fistula | Hamartoma | Right kidney transposition and malrotation | S |
12 | 13 | F | 8 m | Partial sacrococcygeal agenesis (type III) | Anorectal stenosis | Teratoma | Meningocele, Tethered cord | S |
13 | 14 | F | 9 m | Hemisacrum (type IV) | Anorectal stenosis | – | Tethered cord | S |
14 | 15 | F | 2 yr | Partial sacrococcygeal agenesis (type III) | Anorectal stenosis | Teratoma | Spinal arachnoid cysts | S |
15 | 16 | F | 10 m | Hemisacrum (type IV) | Anorectal stenosis | Teratoma | – | S |
16 | 17 | F | 9 m | Sacral agenesis (NA) | Anorectal stenosis | Lipoma | – | S |