À propos d'un cas de syndrome de Treacher-Collins : apports de l'échographie dans le diagnostic et la prise en charge

Treacher-Collins syndrome is a rare autosomal dominant disorder of facial development that may be lethal. Sonographer should look for craniofacial dysmorphism in front of the only presence of polyhydramnios with or without cleft palate. If research is possible by conventional two-dimensional sonography, 3D ultrasound appears to be essential in confirming the diagnosis.