Newborn Female, Dysmorphic Facial Features

Findings:

Diffuse thinning of cortical mantle with absence of septum. Fused thalami and orbits.

DDX:

For cortical thinning: Severe hydrocephalus, hydranencephaly, holoprosencephaly.

Diagnosis:

Alobar holoprosencephaly.

Discussion:

Absence of septum help distinguish holoprosencephaly from the other DDx.

Submitted by Paritosh Khanna, MD, UW Neuroradiology Fellow