Document Detail


Otolaryngological presentations of Cornelia de Lange syndrome.
MedLine Citation:
PMID:  25060937     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Jane Hamilton; W Andrew Clement; Haytham Kubba
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-6-19
Journal Detail:
Title:  International journal of pediatric otorhinolaryngology     Volume:  -     ISSN:  1872-8464     ISO Abbreviation:  Int. J. Pediatr. Otorhinolaryngol.     Publication Date:  2014 Jun 
Date Detail:
Created Date:  2014-7-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8003603     Medline TA:  Int J Pediatr Otorhinolaryngol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.
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