title: Filippi syndrome: report of three additional cases.
abstract: Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation. We report on three unrelated individuals with Filippi syndrome. All have microcephaly, minor facial anomalies, variable syndactyly of digits, growth impairment, and developmental delay. One patient also has polydactyly, which has not been reported previously in the Filippi syndrome.
authors.affiliation: Gundersen Lutheran Medical Center, La Crosse, Wisconsin, USA. mwilliam@gundluth.org
authors.forename: M S
authors.initials: MS
authors.lastname: Williams
authors.forename: J L
authors.initials: JL
authors.lastname: Williams
authors.forename: D S
authors.initials: DS
authors.lastname: Wargowski
authors.forename: R M
authors.initials: RM
authors.lastname: Pauli
authors.forename: B A
authors.initials: BA
authors.lastname: Pletcher
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D017689:Polydactyly / Q000235:genetics; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome