Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature

Publication date: Available online 12 October 2017
Source:International Journal of Pediatric Otorhinolaryngology
Author(s): Pier Marco Bianchi, Alessandra Bianchi, Maria Cristina Digilio, Filippo Maria Tucci, Emanuela Sitzia, Giovanni Carlo De Vincentiis
KBG syndrome is a rare genetic disorder, due to a mutation of ANKRD11, characterized by specific craniofacial dysmorphism, short stature and macrodontia of upper central incisors, intellectual disability and skeletal anomalies. We report a de novo mutation of ANKRD11 gene in a 7-years old girl, affected by KBG syndrome with bilateral conductive hearing loss. The aim of this article was to review the audiological findings of this syndrome.



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