Cornelia de lange Syndrome (CdlS) is a rare genetic disorder caused by variances of seven genes regulating the cohesion complex. Sensorineural hearing loss is reported in 40% of children with CdlS. Only a few case reports with audiological investigations have been published, probably for the difficulty in examining the hearing levels of these patients. In this case report, we present the results of auditory evaluation, including aBr test, in a 4-year-old boy with a diagnosis of CdlS, and we reviewed the existing literature about the use of aBr in the hearing assessment of children with CdlS.

Usefulness of auditory brainstem response in Cornelia de lange Syndrome / Troisi, D.; de Luca, P.; Cassandro, C.; Ralli, M.; Viola, P.; Albera, A.; Gioacchini, F. M.; de Campora, L.; Tassone, D.; Scarpa, A.. - 72:2(2022), pp. 93-95. [10.23736/S2724-6302.21.02396-3]

Usefulness of auditory brainstem response in Cornelia de lange Syndrome

Ralli M.;
2022

Abstract

Cornelia de lange Syndrome (CdlS) is a rare genetic disorder caused by variances of seven genes regulating the cohesion complex. Sensorineural hearing loss is reported in 40% of children with CdlS. Only a few case reports with audiological investigations have been published, probably for the difficulty in examining the hearing levels of these patients. In this case report, we present the results of auditory evaluation, including aBr test, in a 4-year-old boy with a diagnosis of CdlS, and we reviewed the existing literature about the use of aBr in the hearing assessment of children with CdlS.
2022
brain stem auditory evoked potentials; De lange syndrome; hearing loss; intellectual disability
01 Pubblicazione su rivista::01i Case report
Usefulness of auditory brainstem response in Cornelia de lange Syndrome / Troisi, D.; de Luca, P.; Cassandro, C.; Ralli, M.; Viola, P.; Albera, A.; Gioacchini, F. M.; de Campora, L.; Tassone, D.; Scarpa, A.. - 72:2(2022), pp. 93-95. [10.23736/S2724-6302.21.02396-3]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1651669
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