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 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).
Qiuju Wang; Fei-Fan Zhao; Yong-Bing Shi
Related Documents :
22218939 - Compartment syndrome of the thigh after blunt trauma: a complication not to be ignored.
7956179 - Obsessive characteristics in subjects with tourette's syndrome are related to symptoms ...
22041369 - Long-term efficacy of trilostane for cushing's syndrome due to adrenocorticotropin-inde...
22054059 - Gilles de la tourette's syndrome in a patient with 47(xxx) syndrome: a case report.
21771179 - Rituximab treatment for childhood refractory nephrotic syndrome.
21641249 - Antielevation syndrome with onset of diplopia 10 years after inferior oblique anterior ...
6703509 - Bilateral diaphragmatic paralysis as a possible paraneoplastic syndrome from renal cell...
23193949 - Acute ischemic stroke due to carotid dissection in a boy with down syndrome.
6228139 - Down syndrome rates and relaxed selection at older maternal ages.
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:  -    
Department of Otorhinolaryngology/Head and Neck Surgery, Institute of Otolaryngology , Chinese PLA Institute of Otolaryngology, Chinese People Liberation Army General Hospital, Beijing , China.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Age-related hearing loss and expression of antioxidant enzymes in BDF1 mice.
Next Document:  Radix Astragali injection enhances recovery from acute acoustic trauma.