Table 2.
Clinical Features of Patients with Aniridia and Associated Anomalies
|
Clinical Features |
|||||||
| Disorder andPatient Number | Age at Referral(XX/XY Status) | W | A | G | R | Other Abnormalities | Deletion(V/C)a |
| WAGR syndrome: | |||||||
| 11b | 4 years (XY) | − | + | − | + | Nystagmus, glaucoma | − |
| 12b | 1 mo (XY) | − | + | + | − | Fallot's tetralogy, 1st and 2nd ribs absent | − |
| 14b | 2 mo (XY) | − | + | + | − | Single kidney | V |
| 16b | 5 years (XY) | + | + | + | − | C | |
| 32 | 2 mo (XY) | − | + | − | + | − | |
| 33 | 10 mo (XY) | − | + | − | + | V | |
| 34 | 7 years (XY) | − | + | + | + | Bilateral cataracts | V |
| 36 | 32 years (XY) | + | + | + | + | Nystagmus | V |
| 41 | 4 years (XX) | − | + | − | + | Immunodeficiency | V |
| 44 | 5 years (XY) | − | + | − | + | Bilateral colobomata | − |
| 47 | 37 years (XY) | − | + | + | + | V | |
| 96 | 18 mo (XX) | + | + | − | − | C | |
| Aniridia and other anomalies: | |||||||
| 13b | 4 mo (XY) | − | + | − | − | Optic atrophy | V |
| 15b | 4 mo (XX) | − | + | − | − | Facial dysmorphism, glaucoma | V |
| 29 | 2 years (XX) | − | + | − | − | Left microphthalmia, anterior segment dysgenesis | − |
| 45 | 2 years (XY) | − | + | − | − | Glaucoma, bicuspid valve, mild stenosis | − |
| 50 | 1 year (XX) | − | + | − | − | Facial dysmorphism | − |
| 68 | 10 mo (XY) | − | + | − | − | Glaucoma | − |
| 69 | 4 mo (XY) | − | + | − | − | Coloboma | − |
| 77 | 1 mo (XY) | − | + | − | − | Exomphalos, glaucoma | − |
a
V = visible deletion; C = cryptic deletion; − = no deletion.
b
Previously reported by Crolla et al. (1997).