Microcephaly, Macrotia, And Mental Retardation

Verloes et al. (1996) described a boy with severe microcephaly, mental retardation, huge ears with very large lobules, median frenulum of the upper lip, ptosis, microdontia, and bilateral ureterohydronephrosis secondary to vesicoureteral reflux. His short-statured mother was mildly mentally retarded; she had microcephaly, ptosis, microstomia, long ears, and a grinning smile. The authors proposed that this complex may be a previously undescribed syndrome with autosomal dominant or X-linked dominant inheritance. The mild form of Cornelia de Lange syndrome (122470) and the Kabuki syndrome (147920) have some overlapping facial features with this entity.