Filippi syndrome: further clinical characterization.
We report on a child with Filippi syndrome who shows syndactyly of fingers and toes, severe pre- and post-natal growth retardation, postnatal microcephaly, epilepsy, and severe mental retardation with speech impairment. Standard cytogenetics, CGH microarray, and molecular analysis of the GJA1 (Cx43) gene coding region were normal. We review the literature and provide additional information delineating the genetic and neurological aspects of the syndrome.
Battaglia
Agatino
A
Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Pisa, Italy. abattaglia@inpe.unipi.it
Filippi
Tiziana
T
Pusceddu
Silvia
S
Williams
Charles A
CA
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics; D005317:Fetal Growth Retardation / Q000235:genetics; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010641:Phenotype; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome