Document Detail


Four systems involved with congenital abnormalities: A new type of syndromic hearing loss - ADOC Wang's syndrome?
MedLine Citation:
PMID:  21631179     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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).
Authors:
Qiuju Wang; Fei-Fan Zhao; Yong-Bing Shi
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-6-1
Journal Detail:
Title:  Acta oto-laryngologica     Volume:  -     ISSN:  1651-2251     ISO Abbreviation:  -     Publication Date:  2011 Jun 
Date Detail:
Created Date:  2011-6-2     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0370354     Medline TA:  Acta Otolaryngol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Department of Otorhinolaryngology/Head and Neck Surgery, Institute of Otolaryngology , Chinese PLA Institute of Otolaryngology, Chinese People Liberation Army General Hospital, Beijing , China.
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