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).

Keywords::

• Enamel hypoplasia
• choroideremia
• patent ductus arteriosus
• congenital auricular organ dysplasia
• syndromic hereditary hearing impairment
• neural crest

Acknowledgments

We thank the patients and their families for their cooperation during this work. This work was supported by grants from the National Natural Science Foundation of China, Key Project (no. 30830104), the National Natural Science Foundation of China (grant 30771203), and Beijing Nature Science Technology Major Project (7070002).

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this paper.