title: Macrostomia, preauricular tags, and external ophthalmoplegia: a new autosomal dominant syndrome within the oculoauriculovertebral spectrum?
abstract: OBJECTIVE
  First and second branchial arch involvement during early embryonic development results in a wide spectrum of anomalies that encompass diverse, superimposed, and heterogeneous phenotypes within the so-called oculoauriculovertebral spectrum. Nine members of a Brazilian family presenting typical branchial arch involvement in association with external opthalmoplegia are reported.
  
  
  CONCLUSIONS
  Macrostomia or abnormal mouth contour, preauricular tags, and uni- or bilateral ptosis were present in association in several patients. To our knowledge, this is the first report on this type of autosomal dominant condition. Clinical and genetic aspects are discussed.
authors.affiliation: Speech-Hearing Genetics Department, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, São Paulo, Brazil. richieri@usp.br
authors.forename: Antonio
authors.initials: A
authors.lastname: Richieri-Costa
authors.forename: Lucilene Arilho
authors.initials: LA
authors.lastname: Ribeiro
mesh_terms: D001763:Blepharoptosis / Q000209:etiology; D001934:Branchial Region / Q000002:abnormalities*; D001938:Brazil; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006053:Goldenhar Syndrome / Q000150:complications* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008265:Macrostomia / Q000209:etiology*; D009886:Ophthalmoplegia / Q000209:etiology*; D010375:Pedigree; D013577:Syndrome