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

摘要

Abstract 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.