Filippi syndrome: Further clinical characterization

We report on a child with Filippi syndrome who shows syndactyly of fingers and toes, severe pre and postnatal growth retardation, postnatal microcephaly, epilepsy, and severe mental retardation with speech impairment. Standard cytogenetics, CGH microarray, and molecular analysis of the GJA1Cx43 gene coding region were normal. We review the literature and provide additional information delineating the genetic and neurological aspects of the syndrome. © 2008 WileyLiss, Inc.