Cebocephaly fetal ultrasound

This clinical case report features the prenatal diagnosis of Cebocephaly, a rare midline craniofacial anomaly closely linked to alobar holoprosencephaly.

Pathology Description:

Cebocephaly refers to a type of rare midline craniofacial anomaly where there is a single nostril (which usually ends blindly) with a proboscis-like nose and hypotelorism (closely spaced eyes).

A Proboscis is a rare congenital anomaly where an anterior appendage-like structure is seen projecting from the midline fetal face or forehead. Depending on the exact location, this has further been classified into various subtypes, such as interorbital proboscis.

Diagnostic Video Recordings:

Below are the clinical ultrasound clips showing the proboscis structure and holoprosencephaly characteristics in the fetus: