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Abstract
Recent advances in genetics and neuroimaging have greatly contributed to our understanding of the spectrum of midline brain and craniofacial malformations known as holoprosencephaly. Neuroradiologic studies have provided detailed characteristics of four major types of holoprosencephaly: alobar, semilobar, lobar, and middle interhemispheric variant. Clinical studies in children with these types of holoprosencephaly have revealed a wide range of survival and neurologic outcomes. Motor and developmental dysfunctions correlate with the severity of the brain malformation in holoprosencephaly. These findings have implications in the management of medical problems associated with holoprosencephaly and overall prognostication.
View details for DOI 10.1016/j.pediatrneurol.2004.03.006
View details for PubMedID 15301825