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.

CONCLUSION:

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: Antonio Richieri-Costa, Lucilene Arilho Ribeiro
• Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association (Cleft Palate Craniofac J) Vol. 43 Issue 4 Pg. 429-34 (Jul 2006) ISSN: 1055-6656 [Print] United States
• PMID: 16854200 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Topics

• Blepharoptosis (etiology)
• Branchial Region (abnormalities)
• Brazil
• Ear, External (abnormalities)
• Female
• Genes, Dominant
• Goldenhar Syndrome (complications, pathology)
• Humans
• Infant, Newborn
• Macrostomia (etiology)
• Ophthalmoplegia (etiology)
• Pedigree
• Syndrome