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

Richieri-Costa A,Ribeiro LA

doi

10.1597/05-060.1

subject

Has Abstract

pub_date

2006-07-01 00:00:00

pages

429-34

issue

4

eissn

1055-6656

issn

1545-1569

pii

05-060R

journal_volume

43

pub_type

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