title: Four systems involved with congenital abnormalities: a new type of syndromic hearing loss - ADOC Wang's syndrome?
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.affiliation: Department of Otorhinolaryngology/Head and Neck Surgery, Institute of Otolaryngology, Chinese PLA Institute of Otolaryngology, Chinese People Liberation Army General Hospital, Beijing, China. wqcr@263.net
authors.forename: Qiuju
authors.initials: Q
authors.lastname: Wang
authors.forename: Fei-Fan
authors.initials: FF
authors.lastname: Zhao
authors.forename: Yong-Bing
authors.initials: YB
authors.lastname: Shi
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D015794:Choroideremia / Q000150:complications*; D003744:Dental Enamel Hypoplasia / Q000150:complications*; D004374:Ductus Arteriosus, Patent / Q000150:complications*; D004423:Ear / Q000002:abnormalities*; D005260:Female; D034381:Hearing Loss / Q000150:complications / Q000151:congenital*; D006801:Humans