Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature. (December 2017)

• Record Type: Journal Article
• Authors: Bianchi, Pier Marco; Bianchi, Alessandra; Digilio, Maria Cristina; Tucci, Filippo Maria; Sitzia, Emanuela; De Vincentiis, Giovanni Carlo
• Is Part Of: International journal of pediatric otorhinolaryngology. Volume 103(2017:Dec.)
• Page Start: 109
• Page End: 112
• Publication Date: 2017-12
• Subjects: KBG syndrome -- Hearing loss -- ANKRD11; Otolaryngology -- Periodicals; Pediatrics -- Periodicals; Otolaryngology -- Periodicals; Pediatrics -- Periodicals; Oto-rhino-laryngologie -- Périodiques; Pédiatrie -- Périodiques; 618.9209751
• DOI: 10.1016/j.ijporl.2017.10.017
• Languages: English
• ISSNs: 0165-5876

Abstract

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.