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Otorhinolaryngology 2022 June;72(2):93-5

DOI: 10.23736/S2724-6302.21.02396-3

Copyright © 2021 EDIZIONI MINERVA MEDICA

lingua: Inglese

Usefulness of auditory brainstem response in Cornelia de Lange Syndrome

Donato TROISI 1, Pietro DE LUCA 1, Claudia CASSANDRO 2 , Massimo RALLI 3, Pasquale VIOLA 4, Andrea ALBERA 2, Federico M. GIOACCHINI 5, Luca DE CAMPORA 6, Domenico TASSONE 6, Alfonso SCARPA 1

1 Department of Medicine, Surgery and Dentistry, University of Salerno, Salerno, Italy; 2 Department of Surgical Sciences, University of Turin, Turin, Italy; 3 Department of Sense Organs, Sapienza University, Rome, Italy; 4 Department of Experimental and Clinical Medicine, Magna Graecia University, Catanzaro, Italy; 5 Department of Otolaryngology, A.O.U. Ospedali Riuniti, Ancona, Italy; 6 Department of Otolaryngology, San Giovanni-Addolorata Hospital, Rome, Italy



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.


KEY WORDS: De Lange Syndrome; Brain stem auditory evoked potentials; Hearing loss; Intellectual disability

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