A case of gross facial anomalies associated with cerebral malformations

Summary We present a case of a 33-year-old primipara who presented to us in the second trimester of pregnancy.

The child had a grossly abnormal and asymmetrical face. A large facial cleft was associated with an anophtalmy and a missing ear. The face was found to be asymmetrical and the cerebellum was shifted to the right. In addition the suspicion of an intracranial tumour was risen. MRI confirmed our Ultrasound findings. No genetic cause could be elucidated. After parental counselling, the pregnancy was interrupted. The parents declined further postmortem analyses.

This is a rare case of severe facial malformations in a genetically healthy child.

Publication History

Article published online:
20 June 2022