Table 1.
Clinical symptoms and signs in female siblings with 4H syndrome
| Type of symptoms and signs | Case 1 age of onset | Case 2 age of onset | ||
|---|---|---|---|---|
| Cataract | + | Diagnosed and operated at the age of 8 years | + | Diagnosed and operated at the age of 3 years |
| Myopia | + | 8 years | + | 3 years |
| Nystagmus | − | − | − | − |
| Optic atrophy | − | − | − | − |
| Sensorineural hearing loss | + Right ear | 3 years | + Left ear | 3 years |
| Microcephaly (below 3rd percentile) | + | At birth | + | At birth |
| Dysphagia | + | 4 years | − | − |
| Hypotonia | + | At birth | + | At birth |
| Brachial plexus paresis | − | − | + Left | At birth |
| Tremors | + | 2.5 years | + | 2.5 years |
| Ataxia | + | 2 years | + | 2 years |
| Dysmetria | + | 3 years | + | 3 years |
| Dysarthria | + | 6 years | − | − |
| Developmental delay | + | 1 year | + | 1 year |
| Intellectual disability | + | 4 years | + | 4 years |
| Wheelchair use | + | 8 years | − | − |
| Epileptic seizures | − | − | − | − |
| Epileptic discharges in EEG | + | 3 years | + | 3 years |
| Dysplasia of the hips | + | At birth operated at the age of 2 year | − | − |
| Flat -valgus feet | + | 3 years | + | 3 years |
| Short stature (below 3rd percentile) | + | 2 years | + | 2 years |
| Hypodontia | + | 2 years | + | 2 years |
| Hypogonadotropic hypogonadism | Too young | − | Too young | − |