Mandible anomalies—how can two-dimensional ultrasound help?

Abstract

Mandible anomalies are congenital facial defects commonly referred in several syndromes, chromosomal and genetic conditions. This anomalies can be associated with profile defects, feeding and breathing disabilities after birth. Prenatal diagnosis of mandible anomalies by two-dimensional ultrasound is possible and relevant for an early posterior management. Different approaches for biometric measurement of fetal mandible have been proposed but still there is no agreement on that. In this case report the first-trimester ultrasound of a healthy fetus, with 13 weeks of gestation, detected an alteration of the facial anatomy by a subjective impression of retrognathia. Indeed the present case report highlights the importance of an objective fetal mandible assessment, on ultrasound study of the face, for growth evaluation, diagnostic purposes and consequently, for early therapeutic interventions.