Table 1.
Summary of clinical characteristics in patients with antenatal TOKAS
| Symptom | Prevalence |
| First antenatal sign | 12–36 GW |
| CDH | 89% (16/18) |
| Abnormal facial gestalt | 72% (13/18) |
| DSD | 72% (13/18) |
| Hand anomalies | 44% (8/18) |
| Nail hypoplasia | 28% (5/18) |
| Broad thumbs | 17% (3/18) |
| Brachytelephalangia | 17% (3/18) |
| Single palmar crease | 11% (2/18) |
| Feet anomalies | 50% (9/18) |
| Syndactylies | 44% (8/19) |
| Nail hypoplasia | 17% (3/18) |
| Broad halluces | 17% (3/18) |
| Polydactylies | 11% (2/18) |
| Microcephaly | 40% (4/10) |
| IUGR | 39% (7/18) |
| Digestive malformations | 33% (6/18) |
| Nuchal thickening | 22% (4/18) |
| Heart malformations | 22% (4/18) |
| Large vessel malformations | 17% (3/18) |
| Renal abnormalities | 17% (3/18) |
| Hydramnios | 11% (2/18) |
| CNS malformations | 11% (2/18) |
| Pre-auricular skin tags | 11% (2/18) |
| Hypo/aplasia of the olfactory bulbs | 6% (1/18) |
CDH, congenital diaphragmatic hernia; CNS, central nervous system; DSD, differences of sexual development; GW, gestational weeks; IUGR, intrauterine growth restriction; TOKAS, Tonne-Kalscheuer syndrome.