We herein describe the antenatal diagnosis of Miller-Dieker syndrome. Ultrasound is the primary means of screening for Miller-Dieker syndrome. However, early presentations of the disease vary widely. With this case report, we want to emphasize facial dysmorphism, and namely retrognathism, as an important feature that can raise suspicion of the diagnosis, especially when associated with ventriculomegaly and intrauterine growth restriction.
What is already known about the topic?
The antenatal diagnosis of Miller-Dieker syndrome is an ultrasound challenge for sonographers. This condition, which is associated with a poor prognosis, can be diagnosed antenatally using ultrasound, magnetic resonance imaging, and genetic analysis of amniotic fluid for deletion at locus 13 of chromosome 17.
What does this article bring up for us?
There are several ultrasound features that raise the suspicion of a Miller-Dieker syndrome and initiate the differential diagnosis process. We focused on facial dysmorphism as a gateway to diagnosis and presented the differential diagnosis with Di George syndrome in a clear and concise manner using a table and ultrasound images obtained during the management of the clinical case described.
Miller-Dieker syndrome, ultrasound, antenatal diagnosis