Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital?

xlomafota13 shared this article with you from Inoreader Is the Conductive Hearing Loss in <b><i>NOG</i></b>-Related Symphalangism Spectrum Disorder Congenital? Via O.R.L. Journal for oto-rhino-laryngology and its borderlands We describe a dominant Japanese patient with progressive conductive hearing loss who was diagnosed with NOG-related symphalangism spectrum disorder (NOG-SSD), a spectrum of congenital stapes fixation syndromes caused by NOG mutations. Based on the clinical features, including proximal symphalangism, conductive hearing loss, hyper­opia, and short, broad middle, and distal phalanges of the thumbs, his family was diagnosed with stapes ankylosis with broad thumbs and toes syndrom e (SABTT). Genetic analysis revealed a heterozygous substitution in the NOG gene, c.645C#x3e;A, p.C215* in affected family individuals. He had normal hearing on auditory brainstem response (ABR) testing at ages 9 months and 1 and 2 years. He was followed up to evaluate the hearing level because of his family history of hearing loss caused by SABTT. Follow-up pure tone average testing revealed the development of progressive conductive hearing loss. Stapes surgery was performed, and his post-operative hearing threshold improved to normal in both ears. According to hearing test results, the stapes ankylosis in our SABTT patient seemed to be incomplete at birth and progressive in early childhood. The ABR results in our patient indicated the possibility that newborn hearing screening may not detect conductive hearing loss in patients with NOG-SSD. Hence, children with a family history and/or known congenital joint abnormality should undergo periodic hearing tests due to pos sible progressive hearing loss. Because of high success rates of stapes surgeries in cases of SABTT, early surgical interventions would help minimise the negative effect of hearing loss during school age. Identification of the nature of conductive hearing loss due to progressive stapes ankylosis allows for better genetic counselling and proper intervention in NOG-SSD patients. ORL View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.