First-trimester diagnosis of micrognathia as a presentation of Pierre Robin syndrome.

Abstract

We describe a case of first-trimester diagnosis of micrognathia. A transvaginal ultrasound scan performed at 13 weeks' gestation revealed an abnormal fetal facial profile consisting of a small mandible and a receding chin. A subsequent amniocentesis at 15 weeks' gestation revealed a normal karyotype. A morphology scan and subsequent postmortem examination at 19 weeks confirmed the first-trimester findings and revealed, in addition to the facial pathology, a complex cardiac abnormality and unilateral talipes equinovarus. These findings are consistent with the diagnosis of Pierre Robin syndrome.