Emberger syndrome: A rare association with hearing loss

Publication date: Available online 7 February 2018
Source:International Journal of Pediatric Otorhinolaryngology
Author(s): Faisal Zawawi, Meirav Sokolov, Thomas Mawby, Karen A. Gordon, Blake C. Papsin, Sharon L. Cushing
Emberger Syndrome (ES) is a rare genetic disorder characterized by lymphedema and myelodysplasia. It is also associated with hearing loss. The genetic mutations associated with ES are not part of the comprehensive 80 gene next generation sequencing (NGS) panel. As a result, the otolaryngologist should maintain an index of suspicion for ES in any child with SNHL who presents repeatedly with recurrent infections, lymphedema and/or cutaneous warts. This paper describes the clinical evolution and management of two children who were followed up for hearing loss and eventually were diagnosed with ES.



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