Table 1.
Comparison of clinical characteristics of Wiedemann-Rautenstrauch-like, POLR3A-mutated patients presented here, the POLR3A-patient from the previous study (Jay et al. 2016), and patients from the literature with suggestive diagnosis of Wiedemann-Rautenstrauch syndrome (Paolacci et al.)
| Individual 1 | Individual 4 | Individual 11 | Previous study, Jay et al. | WRS, Paolacci et al. | |
|---|---|---|---|---|---|
| Sex | Male | Female | Female | Female | 11 female |
| 7 male | |||||
| Age | 10 years | 12 years | 11 months | Deceased at 7 months of age | n.d |
| 9 months | |||||
| Ethnicity | European | European | Latino | European | Various |
| Intrauterine growth retardation | + | + | + | + | 9/16 |
| Triangular face | + | + | + | + | 18/18 |
| Sparse scalp hair | − | + | + | + | 17/18 |
| Thin/translucent skin | + | + | + | + | 15/15 |
| Prominent scalp veins | + | + | + | + | 17/18 |
| Frontal bossing | + | + | + | + | n.d |
| Closely spaced eyes | + | + | + | + | n.d |
| Midface retraction | + | + | + | + | n.d |
| Low set ears | + | + | + | + | n.d |
| Natal teeth | + | − | − | + | 17/18 |
| Mandibular underdevelopment | + | + | + | + | n.d |
| Joint contractures | + | + | − | + | n.d |
| Motor development delay | − | + | ? | ? | n.d |
| Impaired speech development | − | + | ? | ? | n.d |
| Delayed dentition/oligodontia | + | + | ? | ? | 8/16 |
| Lipodystrophy | + | + | + | + | 18/18 |
| Cardiac anomalies | − | + | + | − | n.d |
| Short stature | + | + | ? | ? | 6/7 |
| Kyphosis | + | − | − | − | n.d |
| Congenital respiratory complications | − | + | + | + | n.d |
| Brain anomalies US/MRI | n.d | n.d | Agenesis of corpus callosum | − | 2/7 |
| POLR3A mutation | |||||
| Paternal | c.3337-5T > A | c.3337-5T > A | p.M1I | c.1909 + 18G > A | n.d |
| Maternal | c.3337-1G > A | p.R254* | Not identified | p.R873* | n.d |
+ present, − absent, ? due to young age not applicable, n.d. not done, WRS Wiedemann-Rautenstrauch syndrome