Abstract

Abstract Holoprosencephaly is a congenital structural abnormality of brain resulting from incomplete cleavage of prosencephalon into two cerebral hemispheres. It is classified as a disorder of organogenesis and brain histogenesis and is typically associated with facial anomalies. Holoprosencephaly is relatively rare – the incidence in live births varies between 1:10,000 – 1:15,000 but is described in 1 out of 250 spontaneously aborted embryos. There are four major varieties of holoprosencephaly according to the degree of separation of the brain hemispheres; this division is crucial for the patient’s prognosis. Three classic subtypes are alobar, semilobar, and lobar holoprosencephaly and there is also a fourth subtype called middle interhemispheric variant. We present a case study of a term newborn with prenatally diagnosed holoprosencephaly with severe facial dys-morphism and associated health complications.

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