期刊
ACTA OTO-LARYNGOLOGICA
卷 131, 期 10, 页码 1117-1122出版社
INFORMA HEALTHCARE
DOI: 10.3109/00016489.2011.589405
关键词
Enamel hypoplasia; choroideremia; patent ductus arteriosus; congenital auricular organ dysplasia; syndromic hereditary hearing impairment; neural crest
资金
- National Natural Science Foundation of China [30830104, 30771203]
- Beijing Nature Science Technology Major Project [7070002]
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).
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