Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutation

Abstract Objectives To report the hearing impairment in a new autosomal recessive metabolic disorder due to a mutation in the ANKH gene and to report the outcomes of exploratory tympanotomy. Study design Retrospective chart study. Setting Tertiary referral center. Patients One large consanguineous f...

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Bibliographic Details
Published in:International journal of pediatric otorhinolaryngology 2013-07, Vol.77 (7), p.1152-1157
Main Authors: Thomeer, H.G.X.M, Morava, E, Verbist, B.M, Cremers, C.W.R.J
Format: Article
Language:English
Subjects:
Adolescent
Adult
ANKH
Bone Diseases, Developmental - diagnostic imaging
Bone Diseases, Developmental - genetics
Child
Congenital
Consanguinity
Craniofacial Abnormalities - diagnostic imaging
Craniofacial Abnormalities - genetics
Female
Hearing impairment
Hearing Loss - genetics
Hearing Loss - surgery
Humans
Hyperostosis - diagnostic imaging
Hyperostosis - genetics
Hypertelorism - diagnostic imaging
Hypertelorism - genetics
Male
Middle Aged
Middle Ear Ventilation - methods
Minor ear anomalies
Mutation
Otolaryngology
Pediatrics
Pedigree
Phosphate Transport Proteins - genetics
Radiography
Retrospective Studies
Surgery
Syndrome
Tertiary Care Centers
Treatment Outcome
Turkey
Young Adult
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Summary:Abstract Objectives To report the hearing impairment in a new autosomal recessive metabolic disorder due to a mutation in the ANKH gene and to report the outcomes of exploratory tympanotomy. Study design Retrospective chart study. Setting Tertiary referral center. Patients One large consanguineous family was examined. Three patients underwent exploratory tympanotomy. Intervention Exploratory tympanotomies in three patients. Main outcome measures Medical and otological histories; postoperative hearing outcomes. Results In the patients who received tympanotomies, a postoperative hearing gain of between 5 and 20 dB was noted, with a residual air-bone gap of between 6 and 35 dB (follow-up between 4 and 67 months). The sensorineural component of the hearing impairment varies greatly, between 4 and 23 dB, and this factor might also affect the final hearing outcome. Conclusions Exploratory tympanotomy might improve the hearing outcome in patients with this syndrome and therefore surgery has a limited audiometric benefit in general. Based on anatomical findings, a congenital origin for the ossicular chain anomaly seems likely. It remains unclear whether the sensorineural component of the hearing impairment is progressive and this should be investigated further.
ISSN:0165-5876
1872-8464
DOI:10.1016/j.ijporl.2013.04.028