Macrostomia, Preauricular Tags, and External Ophthalmoplegia: A New Autosomal Dominant Syndrome within the Oculoauriculovertebral Spectrum?
2006 ◽
Vol 43
(4)
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pp. 429-434
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Keyword(s):
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.
1999 ◽
Vol 113
(9)
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pp. 841-843
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2013 ◽
Vol 163
(3)
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pp. 178-184
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1988 ◽
Vol 31
(4)
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pp. 815-820
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1976 ◽
Vol 94
(3)
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pp. 277-289
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Keyword(s):
2002 ◽
Vol 116
(3)
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pp. 221-223
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2011 ◽
Vol 19
(7)
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pp. 820-826
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Keyword(s):
2002 ◽
Vol 113
(3)
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pp. 286-290
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