Table 1 Clinical features of proband and his family
From: A new family with spastic paraplegia type 51 and novel mutations in AP4E1
Probant | Brother | Father | |
|---|---|---|---|
Intelligence | Severe intellectual disability | Deep intellectual disability | Normal |
Speech development | A few words (He understands simple commands) | No speech development (He doesn’t understand commands) | Normal |
Heigh | Short stature (< 3 pc) | Short stature (< 3 pc) | Medium stature (10 pc) |
Microcephaly | Present | Present | No |
Dysmorphic features | |||
Narrow Forehead | Yes | Yes | No |
Ptosis | Yes | Yes | No |
Bulbous nasal Tip | Yes | Yes | Yes |
Full lips | Yes | Yes | Yes |
Others | Large ears with raised ear lobes and thickening of the labrum | Large ears with raised ear lobes and thickening of the labrum | No |
Neurologic problems | |||
Spastic paraplegia | Yes | Yes | No |
Movement | Crawling, standing only with suport He doesn’t walk | Crawling, standing and walking only with support | Total |
Others | Contractures Abduction contracture of the fingers Knee valgus Hypoplasia of the corpus callosum Several episodes of increased drowsiness, increased ptosis, decrease in muscle tone. Metabolic and mitochondrial diseases were excluded | Increasing contractures despite rehabilitation Abduction contracture of the fingers Knee valgus | Hypertension Non-insulin dependent diabetes |