Summary
This syndrome is characterised by a constellation of manifestations including Dandy-Walker complex, migrational brain disorder, macrocephaly, and facial anomalies. It has been described in two brothers. Facial anomalies included hypertelorism, prominent eyes with bluish sclerae, mild ptosis, high forehead and frontal bossing, hypoplastic malars, long philtrum, high-arched alate and micrognathism. Other signs included low nucchal hairline, pectus carinatum with thoracic kyphoscoliosis, hypotonia, poor coordination, and ataxia. Inheritance is likely to be autosomal or X-linked recessive. In a subsequent pregnancy, prenatal diagnosis was made on ultrasonographic anomalies of brain structures, and the pregnancy was terminated. *Author: Orphanet (December 2004)*.
