Macrostomia, preauricular tags, and external ophthalmoplegia: a new autosomal dominant syndrome within the oculoauriculovertebral spectrum?
Cleft Palate Craniofac J
; 43(4): 429-34, 2006 Jul.
Article
em En
| MEDLINE
| ID: mdl-16854200
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Região Branquial
/
Oftalmoplegia
/
Síndrome de Goldenhar
/
Macrostomia
Tipo de estudo:
Etiology_studies
Limite:
Female
/
Humans
/
Newborn
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article