Macrostomia, preauricular tags, and external ophthalmoplegia: a new autosomal dominant syndrome within the oculoauriculovertebral spectrum?
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.
Richieri-Costa
Antonio
A
Speech-Hearing Genetics Department, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, São Paulo, Brazil. richieri@usp.br
Ribeiro
Lucilene Arilho
LA
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