Lissencephaly, Familial, With Cleft Palate And Cerebellar Hypoplasia

Lissencephaly is a brain malformation characterized by absence of gyral formation, resulting in a smooth brain surface from which the disorder derives its name. Several lissencephaly syndromes are known (see, for example, 257320 and 247200). Kerner et al. (1999) described a syndrome of lissencephaly, cleft palate, diffuse agyria, and severe cerebellar hypoplasia in an African American brother and sister who died soon after birth. Microscopic examination of the abnormally thick cerebral cortex showed absence of cortical layering, with preservation of the pia-glial barrier. The authors believed this to be the first report of recurrent lissencephaly with cleft palate and severe cerebellar hypoplasia associated with these unique neuropathologic findings.