Cornelia de Lange Syndrome: What Every Otolaryngologist should Know

Abstract

Cornelia de Lange Syndrome (CdLS) can be expressed in multiple organ systems requiring a variety of specialists, including pediatric otolaryngology. We present the case of a 20-month-old boy with CdLS actively managed by an aerodigestive team consisting of pediatric otolaryngology, pediatric pulmonology, pediatric gastroenterology, with support staff from audiology, speech, and nutrition. His presentation included mixed hearing loss, dysphagia, microaspiration, gastroesophageal reflux, and failure to thrive. We submit this challenging case of CdLS with a review of the literature to focus specific attention on the otolaryngic manifestations of the syndrome and to discuss the benefits of a multidisciplinary approach to these unique patients.

Perfil audiológico de indivíduos com síndrome de Cornelia de Lange: revisão integrativa da literatura

“…Considerando os critérios de inclusão, foi feita a leitura dos 859 títulos. A partir dessa etapa, 818 foram excluídos e então os resumos de 41 artigos foram  2 por não terem apresentado resultado com clareza (15,16) ;  3 com metodologia pouco específica (17,18,19) ;  3 por não responderem à pergunta/objetivo da pesquisa (20,21,22) ;  1 sem acesso ao texto completo, mesmo contatando o autor (23) . Figura 1.…”

“…lidos. Após a leitura dos resumos, 21 estudos foram elegíveis para leitura de texto completo, sendo que após a leitura do texto completo e análise do risco de viés, um total de nove artigos foram excluídos: dois por não terem apresentado resultado com clareza 15,16 ; três com metodologia pouco específica [17][18][19] ; três por não responderem à pergunta/objetivo da pesquisa [20][21][22] ; e um sem acesso ao texto completo, mesmo contatando o autor 23 (Apêndice 2). Assim, 12 artigos foram selecionados para análise na presente revisão (Figura 1).…”

Audiological profile of individuals with Cornelia de Lange syndrome: an integrative review

“…After reading the abstracts, 21 studies were eligible for full-text reading. Then, having read the full texts and analyzed their risk of bias, nine articles were excluded: two for not clearly presenting the results 15,16 ; three for having nonspecific methodologies [17][18][19] ; three for not answering the research question/ objective [20][21][22] ; and one for not having the full text available, even after contacting the author 23 (Appendix 2). Thus, 12 articles were selected for analysis in this review (Figure 1).…”

“… 2 for not clearly presenting results (15,16) .  3 for unspecific methodology (17,18,19) ;  3 for not answering the research question/objective (20,21,22) ;  1 for unavailable full text, even after contacting the author (23) ; The risk of bias of each article was analyzed according to the study type: five of them were case reports [24][25][26][27][28] (Table 1), four were cross-sectional observational studies 9,10,29,30 (Table 2), and three were case series 8,31,32 (Table 3). In general terms, the case reports presented the subjects' demographic data, timeline history, and clinical condition [24][25][26][27] .…”

Dysphagia in Children

“…The incidence is 1 in 10,000 live births. It is equally common in both males and females [26,27]. CdLS has a varied phenotype.…”