Clinical features of the Hall-Riggs patients compared to those of our cases
| Hall-Riggs cases | Our cases | |
|---|---|---|
| Anamnestic features | ||
| Feeding problems/vomiting | 3/6 | 2/2 |
| Poor growth | 6/6 | 2/2 |
| Mental retardation | 6/6 | 2/2 |
| Absent speech | 6/6 | 2/2 |
| Major clinical features | ||
| Microcephaly | 6/6 | 2/2 |
| Epicanthic folds | 5/6 | 2/2 |
| Flat nasal bridge | 6/6 | 2/2 |
| Anteverted nares | 6/6 | 2/2 |
| Full lips | 6/6 | 2/2 |
| Additional findings | ||
| Seizures | 3/6 | 2/2 |
| Abnormal MRI | ? | 2/2 |
| Abnormal dentition | ? | 1/2 |
| Major radiological features | ||
| Delayed bone age | 4/6 | 2/2 |
| Epiphyseal defect | 4/6 | 2/2 |
| Metaphyseal defect | 4/6 | 2/2 |
| Platyspondyly | 2/6 | 2/2 |
| Abnormal vertebrae | 2/6 | — |
| Brachydactyly | 1/6 | 2/2 |