Table 1. Comparison of clinical anomalies in the cases reported here and in those described in literature.
| Clinical findings described in literature | Prevalence (%) | Case 1 | Case 2 |
| Iris coloboma | 50-60 | - | + |
| Craniofacial anomalies | |||
| Micrognathia | + | - | |
| Hemifacial hypoplasia | + | + | |
| Hypertelorism | + | - | |
| Preauricular tags or pits | 85 | + | - |
| Downslanting palpebral fissures | + | - | |
| Strabismus | - | - | |
| Epicanthic folds | - | - | |
| Low-set ears | - | - | |
| Ear malformation | |||
| Microtia | + | - | |
| External auditory meatus agenesis | + | - | |
| Anal malformation | 80 | ||
| Anal imperforation | + | + | |
| Rectal fistula | - | + | |
| Congenital heart disease | 60 | ||
| Anomalous pulmonary venous return | + | + | |
| Fallot tetralogy | - | - | |
| Atrioventricular septal defect | - | - | |
| Urogenital malformation | 70 | ||
| Abnormal male external genitalia | - | - | |
| Renal agenesis | - | - | |
| Hydronephrosis | - | + | |
| Intellectual disability | 50 | - | + |