TABLE I:
Clinical phenotype reported in patients with WBS.
| Van der Lelij et al., 2010 (N=1) |
Capo-Chichi et al., 2013 (N=3 siblings) |
Bailey et al., 2015 (N=1) |
Eppley et al., 2017 (N=2 siblings) |
Patient (1) |
Patient (2) |
Patient (3) |
Patient (4) |
Patient (5) |
Total N= 12 |
|
|---|---|---|---|---|---|---|---|---|---|---|
| Sex | M | (F:2) ; (M:1) | F | (F:2) | M | M | F | M | M | (F:6) ; (M:6) |
| Ethnicity | Polish | Lebanese | British | European/ Native American | Croatian / Italian | Pakistani | Saudi | Saudi | Egyptian | |
| Consanguinity | − | + | − | − | − | + | + | + | + | 7/12 |
| Prenatal IUGR | + | 2/2 | + | 2/2 | + | + | + | + | + | 11/11 |
| Postnatal Growth Restriction | + | 2/2 | + | 2/2 | + | + | + | + | + | 11/11 |
| Microcephaly | + | 2/2 | + | 2/2 | + | + | + | + | + | 11/11 |
| SNHL | + | 3/3 | + | 2/2 | + | + | + | + | + | 12/12 |
| Cochlear Hypoplasia or Functional Abnormalities | + | 2/2 | + | 2/2 | + | + | + | + | NA | 10/10 |
| Imaging | ||||||||||
| Brain Structural Abnormalities | NA | NA | NA | NA | + | + | NA | + | + | 4/4 |
| Developmental Delay | ||||||||||
| Language | + | NA | + | 2/2 | + | + | + | + | + | 9/9 |
| Intellectual Disability | + | 3/3 | + | 2/2 | + | + | + | + | + | 12/12 |
| Gross and Fine Motor | + | 0/1 | NA | 0/2 | − | + | − | − | + | 3/9 |
| Hypotonia | NA | 1/1 | NA | 2/2 | − | + | − | − | − | 4/8 |
| Dysmorphism: | ||||||||||
| Head and Face | + | 3/3 | + | 2/2 | + | + | + | + | + | 12/12 |
| Ears | + | NA | + | 2/2 | + | + | + | NA | + | 8/8 |
| Nose | NA | 3/3 | + | 2/2 | + | + | + | + | + | 11/11 |
| Eye | + | 1/2 | + | 2/2 | + | + | + | + | + | 10/11 |
| Mouth/ Philtrum | + | 1/2 | + | NA | + | + | + | NA | + | 7/8 |
| Skeletal | ||||||||||
| Fingers, Toes | + | 3/3 | + | 2/2 | + | + | + | + | + | 12/12 |
| Other Skeletal | NA | NA | NA | Small radii and fibulae (1/1) | − | − | Talipes equino varus | Craniosynostosis | − | 3/6 |
| Cardiac | VSD | TOF (1/3) | PDA | 0/2 | − | Large PDA, small ASD | VSD | − | − | 5/12 |
| Renal/ Multicystic Kidney | NA | 0/2 | + | NA | NA | − | NA | − | − | 1/6 |
| Genitalia | − | NA | NA | NA | − | + | NA | NA | + | 2/4 |
| Recurrent Infections | − | NA | − | 2/2 | − | − | + | − | + | 4/9 |
| Skin Pigmentation | + | 0/3 | + | 2/2 | − | + | + | − | − | 6/12 |
| Family History of Malignancy | + | NA | NA | NA | + | + | − | NA | − | 3/5 |
N- number; NA- Not available; M: male; F: female; IUGR- Intrauterine growth restriction; SNHL- Sensorineural hearing loss