Purpose of this presentation is to review the Magnetic Resonance Imaging (MRI) findings of holoprosencephaly
pertaining to embriologycal, clinical and current literature.
To this goal, MRI findings of a 6-day-old newborn with semilobar holoprosencephaly, microcephaly and
hypotelorizm is discussed. A separation defect was observed in the forebrain and midbrain structures including
frontal lobes and thalamic nuclei.
Additionally, hypogenetic septum pellucidum was detected. Differential diagnosis of subtypes of
holoprosencephaly and etiology of the pathology are discussed.
Key Words: Holoprosencephaly, MRI
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