Midline facial microsomia: a case report [abstract]
Watson, Kathryn M.
Eagan, Spencer L.
Gorski, Jerome L.
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Holoprosencephaly (HPE) is a severe congenital malformation in which the facial skeleton shows aplasia or hypoplasia of the midline bones from the sphenoid and ethmoid down to the premaxillary bone. HPE was originally described in 1963 by DeMyer who, through observation of patients with this condition, established the concept that the face predicts the brain. With the advent of MRI/CT scanning, it has become evident that the face does not always predict the brain in HPE patients. We describe a patient who fits the phenotypic description of HPE, but lacks the brain findings that are typically associated.
2010 Health Sciences Research Day (MU)