Otolaryngological presentations of Cornelia de Lange syndrome

Hamilton, J., Clement, W. A. and Kubba, H. (2014) Otolaryngological presentations of Cornelia de Lange syndrome. International Journal of Pediatric Otorhinolaryngology, 78(9), pp. 1548-1550. (doi: 10.1016/j.ijporl.2014.05.032) (PMID:25060937)

Abstract

Aim Children with Cornelia de Lange syndrome frequently present to otolaryngology services with hearing problems. Airway problems have not previously been reported. We wish to describe our experience of the overall management in a series of children with Cornelia de Lange syndrome.

Methods Retrospective case note review of children diagnosed with Cornelia de Lange syndrome presenting to our department between 2005 and 2014.

Results Six patients were seen. Airway problems consisted of laryngeal overspill with severe gastroesophageal dysmotility and reflux despite structurally normal airway (1 case), laryngomalacia requiring supraglottoplasty (2 cases), reflux laryngitis with secondary laryngomalacia and coincidental tracheal diverticulum (1 case) choanal atresia requiring stents (1 case) and obstructive sleep apnoea (1 case). Supraglottoplasty produced a dramatic improvement in feeding and breathing in both children who underwent the procedure. Two children had palatal anomalies and one underwent cochlear implantation for a profound sensorineural hearing loss.

Conclusion Children with Cornelia de Lange syndrome have multifaceted ENT problems. Airway pathology has not previously been described in Cornelia de Lange syndrome but has been common in our experience. We wish to highlight that laryngomalacia in Cornelia de Lange syndrome responds well to supraglottoplasty.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Clement, Mr Andy and Kubba, Mr Haytham
• Authors: Hamilton, J., Clement, W. A., and Kubba, H.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: International Journal of Pediatric Otorhinolaryngology
• Publisher: Elsevier
• ISSN: 0165-5876
• ISSN (Online): 1872-8464