Tympanic membrane reconstruction of a persistent perforation associated with massive myringosclerosis in a girl with achondroplasia – case report

Abstract

Achondroplasia is a genetic disease connected with improper function of fibroblast growth factor receptor 3 (FGFR3) resulting in musculoskeletal disorders. Apart from characteristic musculoskeletal abnormalities (short statute with short proximal limb segments, prominent forehead, midface hypoplasia and a depressed nasal bridge) and generalized hypotonia it also affects otolaryngological field in a form of sleep-related upper respiratory tract disorders (obstructive and central apnea) and conductive hearing loss. This is the result of anatomical phenotype, together with Eustachian tube dysfunction. Interestingly, up to 25% of children with achondroplasia may fail hearing screening in one or both ears. In most cases laryngological disorders require surgical procedures, usually adenotomy, adenotonsillectomy, tonsillectomy or tube placement. Such surgical interventions increase the risk of complications, especially when repeated. We would like to present a case of a girl with achondroplasia that was qualified for myringoplasty because of persistent tympanic membrane perforation due to surgical extrusion of persistent ventilation tube, with associated massive myryngoslerosis.