Prenatal diagnosis of isolated frontonasal dysplasia: A case report

Cátia Lourenço1, Cristina Godinho1, Márcia Marinho1

  • 1Prenatal Diagnosis Center, Centro Hospitalar de Vila Nova de Gaia/Espinho, Vila Nova de Gaia, Portugal.

We report a case of mild frontonasal dysplasia, a complex and rare malformation affecting the central portion of the face, especially the eyes, nose, and forehead, which was diagnosed at 20 weeks of gestation. The diagnosis was made by two- and four-dimensional ultrasound and confirmed at autopsy after pregnancy termination. A review of the literature is presented.