Table 1.
Clinical and neuroimaging features of the four MCPH2 patients
| 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 | - |
Abbreviations: F female, M male, nd not determined.