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Initial presentations leading to the diagnosis in occipital horn syndrome.
| Initial Presentation | Number of Patients |
|---|---|
| Neurological | 11 |
| Seizures | 1 |
| Developmental delay | 4 |
| Hypotonia | 6 |
| Connective tissue | 9 |
| Cephalhematoma | 4 |
| Generalized CTD | 3 |
| Inguinal hernia | 2 |
| Urogenital | 5 |
| Bladder diverticula | 3 |
| Urinary infections | 2 |
| Skeletal | 3 |
| Pectus deformity | 1 |
| Skeletal dysplasia | 1 |
| Joint pain | 1 |
| Other | 3 |
| Vomiting and diarrhea | 1 |
| Dysautonomia | 1 |
| Apnea | 1 |
| Segregation analysis | 1 |
| Unknown | 2 |
“CTD”: connective tissue disease.
