| Patient 1
| Patient 2
| Patient 3 | Patient 4
| Patient 5
|
---|---|---|---|---|---|
Previously published | - | - | Patient 5 in Wright et al., 2011 [18] | - | Patient 6 in Wright et al., 2011 [18] |
Age at assessment | 8y | 2y | 6y 10m | 5y | 8y 2m |
Height centile | 50th | 10-25th | 25th | 3rd | 2nd |
Weight centile | 50-75th | 25th | 50-75th | 25th | 2nd |
Head circumference | 50-98th | 25th | 50-98th | 25th | 50th |
Heel Fat pads | + | + | + | + | + |
Fetal finger and toe pads | + | + | + | NR | + |
Fifth nail hypoplasia | - | - | - | - | - |
Hirsutism | - | - | - | - | + |
ID | Mod | Mod | Mild | Mod | Mod |
Speech | Absent | Absent | Delayed | Absent | Delayed |
Seizures | - | + | - | + | - |
Drooling | + | + | + | - | + |
Feeding difficulty | + | - | Mild | - | - |
Scoliosis | - | - | - | - | + |
Inguinal hernia | - | - | - | - | - |
Neuroimaging | Mega cisterna magna on brain MRI | Normal brain MRI | Hypoplastic posterior elements of corpus callosum on MRI | Head CT in first year of life, normal | Normal |