Table 1.
Clinical features of our WAC cases compared to individuals reported in literature.
| Case 1 | Case 2 | Case 3 | De Santo 2015 | Lugtenberg 2016 | Uehara 2018 | Vanegas 2018 | Zhang 2019 | |
|---|---|---|---|---|---|---|---|---|
| Sex | M | F | M | 5 F, 1 M | 6 F, 4 M | 3 M | M | F |
| Age | 16 y/o | 7 y/o | 17 y/o | 1.3–11 y/o | 1.5–22 y/o | 3–22 y/o | 4 y/o | 5.8 y/o |
| Normal perinatal period | + | − | + | 2/6 | 6/10 | 3/3 | + | + |
| Delayed physical Growth | − | + | + | 2/6 | 3/10 | 2/3 | + | − |
| CC size anomaly | − | + (<2SD) | + (<2SD) | N.R. | 2/10 (>2SD) | 1/3 (>2SD) | + | − |
| Development | ||||||||
| Intellectual Disability | Moderate | N.E. | Severe | (IQ > 79) 3/6 | 8/10 (6 Mild, 1 Severe, 1 Moderate) | 3/3 | + | + |
| Language delay | + | + | + | 6/6 | 9/10 | 3/3 | + | + |
| Motor delay | + | + | + | 6/6 | 9/10 | 3/3 | + | + |
| Behavioral problems | ||||||||
| Autistic features | − | + | + | 1/6 | 4/9 | 0/3 | − | N.R. |
| Hyperactivity | − | − | + | 3/6 | 4/10 | 0/3 | + | N.R. |
| Anxiety | − | − | + | 3/6 | 3/10 | 1/3 | + | N.R. |
| Sleep disturbances | − | + | + | 2/6 | 6/10 | 0/3 | − | N.R. |
| Stereotypies | − | + | + | 1/6 | N.R. | 0/3 | − | N.R. |
| Neurological | ||||||||
| Hypotonia | − | + | + | 6/6 | 7/9 | 0/3 | + | + |
| Seizures | − | − | + (focal) | 2/6 | 1/9 | 0/3 | − | + (focal) |
| Epilepsy | − | − | + | 1/6 | 1/9 | 0/3 | − | + |
| Ocular | ||||||||
| Vision | − | − | + | 2/6 | 5/10 | 1/3 | − | |
| Strabismus | − | + | − | 3/6 | 3/10 | 1/3 | − | |
| Dysmorphisms | ||||||||
| Facial shape dysmorphology | − | − | + | N.R. | 5/10 | 2/3 | − | + |
| Prominent forehead | + | − | − | 6/6 | 10/10 | 1/3 | + | N.R. |
| Bulbous nasal tip | + | − | + | 5/6 | N.R. | 3/3 | + | + |
| Long or downslanting palpebral fissures | − | − | + | 1/6 | 5/10 | 3/3 | − | N.R. |
| Synophrys | + | − | − | 3/6 | 2/10 | 1/3 | + | N.R. |
| Deep set eyes | + | − | + | 2/6 | 5/10 | 0/3 | + | N.R. |
| Full lips - thin upper lip | − | − | − | 3/6 | N.R. | 1/3 | − | N.R. |
| Low-set ears | − | − | − | 3/6 | N.R. | 1/3 | + | N.R. |
| Hirsutism/hypertricosis | − | + | − | 2/6 | 1/10 | 1/3 | + | N.R. |
| Digital anomalies | − | + | − | 1/6 | 7/7 | 3/3 | + | N.R. |
| Other | ||||||||
| Feeding difficulties | − | − | + | 4/6 | 4/10 | 0/3 | + | N.R. |
| Constipation | − | − | + | 5/6 | N.R. | 1/3 | − | N.R. |
| Frequent infections | − | − | − | N.R. | 6/8 | 0/3 | + | N.R. |
| Hearing impairment | − | − | − | 2/6 | 0/2, N.R./8 | 0/3 | + | N.R. |
| EEG abnormalities | − | − | + | 0/2 | 0/1, N.R./9 | N.R. | N.R. | + |
| MRI abnormalities | − | − | − | 1/6 | 4/9 | N.R. | − | − |
CC: cranial circumference; IQ: intellectual quotient; NE: not evaluated; NR: not reported; +: present; −: absent.