Four systems involved with congenital abnormalities: a new type of syndromic hearing loss - ADOC Wang's syndrome?
Acta Otolaryngol
; 131(10): 1117-22, 2011 Oct.
Article
em En
| MEDLINE
| ID: mdl-21631179
ABSTRACT
Syndromic hearing impairment encompasses hundreds of phenotypes. We identified a young female patient affected by the unique combination of dysplasia of the auricular system, patent ductus arteriosus (PDA), choroideremia, and enamel hypoplasia. The patient was treated with PDA ligature and left exploratory tympanotomy. Impairment in all four systems suggests a correlation with the neural crest. It is presumed that all of the features result from the same origin, probably through autosomal recessive inheritance or a novel mutation during the embryonic period. When audio-dento-oculo-cardio systems are involved, we suggest that this new syndrome can be named 'ADOC Wang's syndrome', summarizing the disorders of the four systems and indicative of the founding person (Dr Wang, the first and corresponding author of the paper).
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
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Coroideremia
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Hipoplasia do Esmalte Dentário
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Permeabilidade do Canal Arterial
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Orelha
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Perda Auditiva
Tipo de estudo:
Prognostic_studies
Limite:
Child
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Child, preschool
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Female
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Humans
Idioma:
En
Revista:
Acta Otolaryngol
Ano de publicação:
2011
Tipo de documento:
Article