Table 1.
Frequency of clinical phenotypes in patients with PIGN-associated Fryns syndrome versus MCAHS1
| PIGN-associated Fryns syndromea (with presumed PIGN loss of function variants). | PIGN-associated MCAHS1b (with presumed residual PIGN function) | |||
|---|---|---|---|---|
| Polyhydramnios | 60% | (6/10) | 23% | (3/13) |
| Macrosomiac | 33% | (2/6) | 47% | (8/17) |
| Facial dysmorphism | 80% | (8/10) | 76% | (13/17) |
| Diaphragmatic hernia | 70% | (7/10) | 0% | (0/17) |
| Brachytelephalangiad | 80% | (8/10) | 23.5% | (4/17) |
| Orofacial cleft | 70% | (7/10) | 0% | (0/17) |
| Cloudy cornea/cataract | 33% | (2/6) | 5.8% | (1/17) |
| Cardiovascular malformations | 60% | (6/10) | 35% | (6/17) |
| Genitourinary anomalies | 50% | (5/10) | 17.6% | (3/17) |
| Congenital cerebral malformations | 30% | (3/10) | 0% | (0/12) |
| Progressive cerebellar atrophy | — | 41.6% | (5/12) | |
| Abnormal EEG/seizures | 100% | (2/2) | 94% | (16/17) |
| Neurological featurese | 50% | (1/2) | 100% | (17/17) |
| Perinatal deathf | 100% | (10/10) | 0% | (0/17) |
| Lethal courseg | — | 52.9% | (9/17) | |
Features were not available for all patients
a10 Patients from Brady et al., McInerney-Leo et al., and our series
b17 Patients from Maydan et al., Ohba et al., Couser et al., Fleming et al., Khayat et al., Nakagawa et al., Jezela-Stanek et al
cBirth weight on or above 95th centile
dClinical (phalanges, nails) and/or radiological features
eHypotonia, developmental delay when survival beyond first week of life
fTermination of pregnancy or death during first weeks of life
gDeath beyond one month of life