Presentation
Microcephaly and mental retardation. History of treated cleft lip.
Patient Data
Microcephaly is noted.
CT scan of the brain revealed semilobar holoprosencephaly. Abnormal and incomplete cleavage of the frontal lobes and absent falx anteriorly. H-shaped monoventricle with partially developed occipital and temporal horns and absent septum pellucidum. Partial fusion of the basal ganglia and the thalami. Dysgenesis of the corpus callosum.
Cleft palate is evident on the 3D volume rendering images.
Case Discussion
Holoprosencephaly is classified according to severity into alobar, semilobar and lobar types.
Craniofacial abnormalities associated with holoprosencephaly include hypotelorism ; nasal abnormalities including absent nasal septum,choanal atresia,and cleft upper lip, cleft palate, small mandible.
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