title: Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient.
abstract: We report on a 4-year-old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence that BFSS and Schilbach-Rott syndrome (SRS) are the same condition.
authors.affiliation: Departamento de Genética, Instituto de Biociências, Universidade Estadual Paulista/UNESP, Botucatu, SP, Brazil.
authors.forename: Daniel Rocha
authors.initials: DR
authors.lastname: de Carvalho
authors.forename: Natalia Freitas
authors.initials: NF
authors.lastname: Rossi
authors.forename: Silvana
authors.initials: S
authors.lastname: Schellini
authors.forename: Danilo
authors.initials: D
authors.lastname: Moretti-Ferreira
authors.forename: Antônio
authors.initials: A
authors.lastname: Richieri-Costa
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D016569:Blepharophimosis / Q000235:genetics* / Q000601:surgery; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D050278:Finger Phalanges / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D011859:Radiography; D013577:Syndrome; D050277:Toe Phalanges / Q000002:abnormalities / Q000000981:diagnostic imaging