Cornelia De Lange Syndrome and Cochlear Implantation

Document Type: Case Report


1 Ist Academic ENT Department, AHEPA Hospital, Aristotle University of Thessaloniki

2 1st Academic ENT Department, AHEPA Hospital, Aristotle University of Thessaloniki


Literature regarding the different degrees of hearing loss in patients with Cornelia de Lange syndrome (CDLS) reports that half of the affected patients exhibit severe to profound sensorineural hearing loss. We present the first pre-school child with CDLS who underwent cochlear implantation for congenital profound sensorineural hearing loss.
Case Report:
A 3-year-old boy with CDLS underwent unilateral cochlear implantation for bilateral profound sensorineural hearing loss. He had characteristic facial features, bushy eyebrows and synophrys, limb anomalies, growth and mental retardation. Based on the results of postoperative speech perception and production tests, his gain in language skills and expressive vocabulary was modest. However, a cochlear implantation had a significant effect on auditory development, in terms of making him aware of sound localization and the different types of environmental sound.
Criteria for cochlear implantation are expanding and now include children with disabilities in addition to deafness, such as those with CDLS. Profoundly hearing-impaired children affected by borderline mental retardation should be considered as potential candidates for cochlear implantation.


Main Subjects

1. Kim J, Kim EY, Lee JS, Lee WS, Kim HN. Temporal bone CT findings in CDLS. AJNR Am J Neuroradiol. 2008; 29 (3): 569–73.

2. Marres HA, Cremers CW, Jongbloet PH. Hearing levels in the CDLS. A report of seven cases. Int J Pediatr Otorhinolaryngol. 1989; 18 (1): 31–7.

3. Ichiyama T, Hayashi T, Tanaka H, Nishikawa M, Furukawa S. Hearing impairment in two boys with CDLS. Brain Dev. 1994; 16 (6): 485–7.

4. Kaga K, Tamai F, Kitazumi E, Kodama K. Auditory brainstem responses in children with CDLS. Int J Pediatr Otorhinolaryngol. 1995;31(2-3): 137–46.

5. Sakai Y, Watanabe T, Kaga K. Auditory brainstem responses and usefulness of hearing aids in hearing impaired children with CDLS. Int J Pediatr Otorhinolaryngol. 2002; 66 (1): 63–9.

6.  Egelund EP. Congenital hearing loss in patients with CDLS (a report of two cases). J Laryngol Otol. 1987;101 (12):1276–9.

7. Sataloff RT, Spiegel JR, Hawkshaw M, Epstein JM, Jackson L. CDLS. Otolaryngologic manifestations. Arch Otolaryngol Head Neck Surg. 1990; 116 (9): 1044–6.

8. Rachovitsas D, Psillas G, Chatzigiannakidou V, Triaridis S, Constantinidis J, Vital V. Speech perception and production in children with inner ear malformations after cochlear implantation. Int J Pediatr Otorhinolaryngol. 2012; 76 (9): 1370–4.

9. Pulec JL, Saadat D. Multichannel cochlear implantation in a child with Brachmann-de Lange syndrome. Otolaryngol Head Neck Surg. 1995; 113 (5): 641–3.

10. Goodban MT. Survey of speech and language skills with prognostic indicators in 116 patients with CDLS. Am J Med Genet. 1993; 47 (7): 1059–63.

11. Berney TP, Ireland M, Burn J. Behavioural phenotype of CDLS. Arch Dis Child 1999; 81 (4): 333–6.