Medico Obstetra Perinatologo, Centro Clinico de Maternidad Leopoldo Aguerrevere, Caracas, Venezuela.

Case report

A 34-year-old woman presented to our department at 27 weeks of her pregnancy due to abnormal cranial findings discovered by her doctor.

Our examination found a female fetus with typical signs of craniosynostosis, ocular proptosis, beaked nose, flat facial profile. Corpus callosum was normal with no hydrocephaly. The cardiac anatomy was also normal. An amniocentesis revealed a normal karyotype. The baby was born by a cesarean section and was examined by geneticists and other specialists (ophthalmologist and neurologist). Their final clinical diagnosis was the Crouzon syndrome, but unfortunately the molecular diagnosis wasn’t available. The family history was unremarkable so this case probably represents a fresh mutation in the fibroblast growth factor receptor 2 gene (FGFR2).  The baby has developed hydrocephaly and underwent surgery.

Images 1, 2: Image one shows sagittal scan of the fetal head with frontal bossing, beaked nose and flat facial profile. Image 2 shows transverse scan at the level of fetal orbits. Ocular proptosis due to shallow orbits can be seen.

Images 3, 4: Transverse scans of the fetal head. The skull is slightly angulated at the level of cranial sutures and the skull has mildly brachycephalic configuration.

Images 5, 6: Sagittal scans of the fetal head - corpus callosum was present in our case, although this syndrome is occasionally associated with its agenesis.

Images 7, 8: Fetal heart and great vessel morphology was normal.

Image 9: 3D image of the fetal face - slight ocular proptosis can be recognized.

Video 1: Video shows 3D appearance of the fetal face.

Images 10, 11: Postnatal appearance of the baby.

Image 12: Postnatal appearance of the baby.