Fetal cystic biliary lesion with absent gallbladder (Cystic biliary atresia)
Maternal hypertrichosis and synophrys
Suspicion of syndromic background
Clinical Clue
Mother has hypertrichosis; synophrys
Fetus has cystic biliary anomaly with absent gallbladder
In many families:
- The mother may have mild or mosaic CdLS
- The fetus may have more severe disease
Biliary Anomalies Can Occur in CdLS
Hepatobiliary abnormalities are documented in Cornelia de Lange syndrome.
Reported hepatobiliary features include:
- Absent or small gallbladder
- Biliary dysgenesis
- Cholestasis
- Biliary atresia–like presentations
- Feeding and GI dysmotility
CdLS genes affect: Cohesin complex → organ morphogenesis → ductal plate development
Cystic biliary atresia + maternal CdLS traits → raises suspicion for familial CdLS.
Maternal Phenotype: Very Important
- Hypertrichosis
- Synophrys
Other subtle maternal signs worth checking:
- Short stature
- Small hands
- Mild learning difficulty
- High-arched palate
- Thin upper lip
- Long philtrum
Mosaic or mildly affected adults
Genetic Background
Most CdLS cases are: De novo
Familial transmission does occur, especially with:
- NIPBL gene mutations
- SMC1A gene variants (X-linked)
- HDAC8 gene variants
Maternal mosaicism is well documented.
This explains: Mild maternal features & Severe fetal disease
Maternal Mosaic CdLS
Leading to: Fetal CdLS with biliary anomaly
This fits: Subtle maternal phenotype → syndromic fetus
Autosomal dominant developmental syndromes
With: Variable expressivity
CdLS is a classic example.
Conclusion
Fetal cystic biliary atresia
With: Possible familial or mosaic CdLS
Especially given maternal facial phenotype.