Praxis Central, Willy-Brandt-Platz 4 - 45127 Essen, Netherlands.
Case report
A 28-year old woman (G1P0) with Treacher-Collins Syndrome presented at 12, 14 and 16 weeks of pregnancy. The karyotype and the amount of the amniotic fluid were normal. The fetus presented with an abnormal profile (retrognathia) and the low set ears. The fetus had the same mutation as its mother and the diagnosis was confirmed by DNA analysis on chorionic villi.
Images 1, 2: 3D and 2D images showing the abnormal facial profile of the fetus with micrognathia.