Table 1 Comparison of the phenotypic features of the proband with patients showing duplication of Miller-Dieker region
Paper | [12] | [15] | [11] | [10] | [9] | [14] | [13] | [16] | [10] | [14] | [14] | [2] | [10] | Present Study |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Patient reference | Patient 1 | Patient 1 | Patient 1 | Patient 3 | Patient 7 | Patient 12 | Patient 1 | Patient 1 | Patient 2 | Patient 13 | Patient 15 | Patient 10 | Patient 1 | Patient 1 |
Size of duplication, Mb | 10,7 | 5,77 | 4,2 | 4 | 3,6 | 3,4 | 3,22 | 3,1 | 3 | 2,78 | 2,16 | 2 | 1,8 | 2,9 |
Inheritance | Maternal balanced translocation | De novo | ? | De novo | De novo | De novo | Paternal balanced translocation | Maternal balanced translocation | De novo | Paternal | De novo | De novo | De novo | Maternal balanced translocation |
Age at diagnosis, years | prenatal | 4 | 13 | 1 | 10 | 28 | 0.5 | 6 | 1 | 13mo | 14 | 6.5 | 14 | 2 |
Gender | F | F | F | M | F | F | F | F | F | M | F | M | M | F |
Birth height, cm | NA | 55 | Normal | 50 | 53 | NA | 51 | NA | NA | NA | NA | Normal | 53 | 52 |
Birth weight, g | NA | 2680 | Normal | 3380 | 3060 | NA | 3000 | NA | 4200 | NA | NA | Normal | 3350 | 3500 |
Current height | NA | + 1SD | + 1SD | + 1SD | + 1SD | NA | 50–75th percentile | 111 cm (10–25th percentile | Normal | NA | NA | Normal | + 3.5 SD | +1,05DS |
Current weight | NA | +1SD | +1SD | +1SD | +2SD | NA | 25th percentile | 17 kg (10th percentile) | -2SD | NA | NA | Normal | +1SD | + 0,6DS |
Cranio-facial dysmorphism Hypotonic face | NA | + | + | + | – | + | – | – | + | + | NA | NA | + | – |
Broad midface | NA | NA | + | + | – | – | – | + | + | – | – | NA | – | – |
High forehead | + | + | – | + | – | NA | – | + | + | + | NA | NA | + | + |
Upward palpebral fissures | NA | + | – | – | + | NA | + | + | – | – | NA | – | – | + |
Hypertelorism | NA | + | + | + | – | – | + | + | + | – | – | – | + | + |
Epicanthus | NA | NA | NA | + | NA | NA | – | – | – | – | NA | NA | – | + |
Strabismus | NA | NA | – | – | + | NA | + | – | – | – | NA | – | – | – |
Broad nasal bridge | NA | + | + | + | – | NA | + | + | + | + | NA | – | + | + |
Small mouth | NA | + | + | + | Normal | + | + | + | + | + | + | Prominent cupid bow | Normal | + |
Low-set-ears | + | NA | – | – | – | NA | – | + | + | + | NA | NA | + | – |
Triangular chin | NA | NA | + | + | NA | + | + | – | + | + | + | + | – | + |
Neck appearance | NA | NA | Normal | Short | Normal | NA | Short | Normal | Short | NA | NA | Normal | Normal | Short |
Limb abnormalities | NA | NA | + | – | – | – | Long fingers | Long fingers | + | – | – | – | – | Long fingers |
Hip luxation | NA | NA | – | + | – | NA | – | – | – | NA | NA | – | – | – |
Equinovalgus | NA | NA | – | Right | – | NA | + | – | – | NA | NA | – | – | – |
Neurological features Hypotonia | NA | + | + | + | – | NA | – | – | + | – | + | + | + | – |
Delayed mental development | NA | + | + | + | + | LD | + | – | + | Mild LD | Mild LD | – | + | – |
Delayed motor development | NA | + | + | + | + | + | + | + | + | NA | + | – | + | + |
Abnormal behavior | NA | NA | + | + | + | + | + | + | + | – | – | Autism | + | + |
Brain imaging results | NA | Normal | Normal | Dilated lateral ventricles/ Corpus Callosum Agenesis | Reduced brain size, Corpus Callosum Hypoplasia, Cerebellar Agenesis | NA | Cortical Atrophy and Hypoplasia of Corpus Callosum | NA | NA | Thin Corpus Callosum, Cerebellar vermis hypoplasia | NA | NA | Normal | Corpus Callosum Hypoplasia |