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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