Table 1.
Most Common Clinical Features Observed in WABS Patients
| Reference Phenotype |
van der Lelij et al (2010)24 (N = 1) |
Capo-Chichi et al (2013)29 (N = 3) |
Bayley et al (2015)30 (N =1) |
Eppley et al (2017)31 (N = 2) |
Alkhunaizi et al (2018)32 (N = 5) |
Bottega et al (2019)34 (N = 2) |
Rabin et al (2019)35 (N = 2) |
Number of Patients (N = 16) |
|---|---|---|---|---|---|---|---|---|
| Sex | 1 M | 1 M 2 F |
1 F |
2 F |
4 M 1 F |
2 F |
1 M 1 F |
7 M 9 F |
| Intra-uterine growth restriction | + (1/1) | + (2/2) | + (1/1) | + (2/2) | + (5/5) | + (2/2) | + (1) NA (1) |
+ (15/16) NA (1) |
| Post-natal growth retardation | + (1/1) | + (2/2) | + (1/1) | + (2/2) | + (5/5) | + (2/2) | + (2/2) | + (16/16) |
| Microcephaly | + (1/1) | + (2/2) | + (1/1) | + (2/2) | + (5/5) | + (2/2) | + (2/2) | + (16/16) |
| Intellectual disability | + (1/1) | + (2/2) | + (1/1) | + (2/2) | + (5/5) | + (1) − (1) |
+ (2/2) | + (15/16) − (1/16) |
| Facial dysmorphia | + (1/1) | + (2/2) | + (1/1) | + (2/2) | + (5/5) | + (2/2) | + (2/2) | + (16/16) |
| Skeletal abnormalities of fingers/toes | + (1/1) | + (2/2) | + (1/1) | + (2/2) | + (5/5) | + (1) − (1) |
+ (2/2) | + (15/16) − (1/16) |
| Hearing loss | + (1/1) | + (2/2) | + (1/1) | + (2/2) | + (5/5) | + (2/2) | + (2/2) | + (16/16) |
| Sister chromatid cohesion defects | + (1/1) | + (2/2) | + (1/1) | + (2/2) | + (5/5) | + (2/2) | + (2/2) | + (16/16) |
| Increased induced chromosome breaks | + (1/1) | + (2/2) | + (1/1) | + (2/2) |
− (2) NA (3) |
NA (2/2) |
+ (1) NA (1) |
+ (7/16) − (3/16) NA (6/16) |
Abbreviations: N, number; M, male; F, female; NA, not available.