Table 1 Clinical and neuroimaging features of the four MCPH2 patients
From: The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome
Patient | II-1 | II-2 | II-3 | II-4 |
|---|---|---|---|---|
Gender | F | M | M | F |
Age at assessment (yrs) | 59 | 56 | 55 | 53 |
Clinical features | ||||
Height (cm) | 158 | 154 | 166 | 154 |
Height percentile | 10-25th | <5th | 5th | 5-10th |
Occipito-frontal circumference (cm) | 48.5 | 52 | 51 | 48 |
Occipito-frontal circumference (SD) | -4 to -5 SD | -2 to -3 SD | -3 SD | -4 to -5 SD |
Sloping forehead | + | + | + | + |
Intellectual disability | Moderate-severe | Severe | Severe | Moderate-severe |
Behaviour | Pleasant | Self injurious behaviour | Self injurious behaviour | Pleasant |
Tone | Normal | Hypertonia | Hypertonia | Normal |
Sensory exam | Normal | Normal | Normal | Normal |
Reflexes | Normal | Hyperreflexia/ankle clonus | Hyperreflexia/ankle clonus | Normal |
Bladder/bowel incontinence | +/- | +/+ | +/+ | +/- |
Neuroimaging features | ||||
Microcephaly | + | Nd | Nd | + |
Polymicrogyria | - | Nd | Nd | - |
Cerebellar hypoplasia | - | Nd | Nd | - |
Cortical thickenng | - | Nd | Nd | - |
Corpus callosum hypoplasia | - | Nd | Nd | - |