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Holoprosencephaly and Midline Facial Anomalies: Redefining Classification and Management

Holoprosencephaly encompasses a series of midline defects of the brain and face. Most cases are associated with severe malformations of the brain which are incompatible with life. At the other end of the spectrum, however, are patients with midline facial defects and normal or near-normal brain development. Although some are mentally retarded, others have the potential for achieving near-normal mentality and a full life expectancy. The latter patients do not fit clearly into the previously defined classification system. Proposed is a new classification focusing on those patients with normal or lobar brain morphology but with a wide range of facial anomalies. The classification aids in planning treatment. Coupled with CT scan findings of the brain and a period of observation, patients unlikely to thrive can be distinguished from those who will benefit from surgical intervention. Repair of the false median cleft lip and palate may suffice in patients with moderate mental retardation. Patients exhibiting normal or near-normal mentality with hypotelorbitism and nasomaxillary hypoplasia can be treated with a simultaneous midface advancement, facial bipartition expansion, and nasal reconstruction.