Table 1 Clinical data of the two affected foetuses
Case | Foetus 1 (II:1) | Foetus 2 (II:2) | ||||
|---|---|---|---|---|---|---|
Growth (GW) | 24 | 33 | 36 | 24 | 26 | 29 |
BPD (SD) | − 6.0 | − 6.0 | − 6.1 | − 4.4 | − 5.6 | − 6.0 |
HC (SD) | − 4.0 | − 5.6 | − 7.5 | − 3.7 | − 4.2 | − 5.5 |
FL (SD) | − 2.0 | − 1.6 | − 2.0 | 0 | − 1.0 | 0 |
HL (SD) | − 1.5 | / | − 1.0 | 0 | 0 | 0 |
AC (SD) | / | − 2.4 | − 3.8 | − 0.7 | − 1.0 | − 1.4 |
Weight | / | 1.047 ± 0.153 kg (29 GW, < 50 centile) | ||||
Brain anomalies | ||||||
Hypogenesis or agenesis of corpus callosum | – | – | ||||
Absence of septum pellucidum cavity | – | + | ||||
Intracranial cysts | + | + | ||||
Small vermis | – | – | ||||
Skeletal anomalies | ||||||
Short limb | + (slightly short) | – | ||||
Flexion contractures | – | – | ||||
Cardiac abnormalities | – | – | ||||
Skin and skin appendage | / | / | ||||