title: Filippi syndrome: two cases with ectodermal features, expanding the phenotype.
abstract: We report two unrelated children with Filippi syndrome. Both show typical facial dysmorphism, syndactyly of fingers and toes, growth retardation, postnatal microcephaly and developmental delay, particularly involving speech. In addition both children have unusual teeth and hair. We review the literature and propose that neurological and ectodermal involvement may be under-recognised features of the syndrome.
authors.affiliation: Academic Unit of Medical Genetics and Regional Genetic Service, St Mary's Hospital, Manchester M13 0JH, UK.
authors.forename: S
authors.initials: S
authors.lastname: Sharif
authors.forename: D
authors.initials: D
authors.lastname: Donnai
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000503:physiopathology; D019066:Facies; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000503:physiopathology*; D013576:Syndactyly / Q000503:physiopathology*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000503:physiopathology*