Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports

Abstract Background Cornelia de Lange syndrome is a rare genetic disease with otolaryngological involvement. The classic phenotype is characterized by distinctive facial features, intellectual disability, growth delay, hirsutism, and upper-limb reduction. Nasal polyposis was previously reported in a...

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Main Authors: Roberta Onesimo (Author), Rita De Santis (Author), Chiara Leoni (Author), Mario Rigante (Author), Marco Piastra (Author), Elisabetta Sforza (Author), Angelo Selicorni (Author), Giuseppe Zampino (Author)
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Published: BMC, 2023-07-01T00:00:00Z.
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001 doaj_efcfeab4e6fb4f649fb1afb4b7e825c9
042 |a dc 
100 1 0 |a Roberta Onesimo  |e author 
700 1 0 |a Rita De Santis  |e author 
700 1 0 |a Chiara Leoni  |e author 
700 1 0 |a Mario Rigante  |e author 
700 1 0 |a Marco Piastra  |e author 
700 1 0 |a Elisabetta Sforza  |e author 
700 1 0 |a Angelo Selicorni  |e author 
700 1 0 |a Giuseppe Zampino  |e author 
245 0 0 |a Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports 
260 |b BMC,   |c 2023-07-01T00:00:00Z. 
500 |a 10.1186/s13052-023-01454-3 
500 |a 1824-7288 
520 |a Abstract Background Cornelia de Lange syndrome is a rare genetic disease with otolaryngological involvement. The classic phenotype is characterized by distinctive facial features, intellectual disability, growth delay, hirsutism, and upper-limb reduction. Nasal polyposis was previously reported in association with chronic rhinosinusitis, however data about prevalence, diagnosis, treatment and prognosis are lacking for this cohort of patients, affected by rare disease. Case presentation We describe the whole diagnostic and therapeutic workflow of nasal polyps in two pediatric patients with Cornelia de Lange, successfully diagnosed and treated by nasal endoscopy. Conclusion Our report confirm that nasal endoscopy is a safe and useful tool in the diagnosis, treatment and follow-up of nasal polyps, even in Cornelia de Lange syndrome pediatric patients. We want to increase the alert for the detection of nasal polyps in patients with Cornelia de Lange syndrome since pediatric age. We recommend endoscopy in all patients with Cornelia de Lange syndrome and symptoms of chronic nasal obstruction and/or OSAS. Multidisciplinary team and sedation service could be useful in the management of Cornelia de Lange syndrome patients with airway obstruction symptoms and sleep disturbance when severe intellectual disability, autism or psychiatric findings are present. 
546 |a EN 
690 |a Cornelia de Lange Syndrome 
690 |a Nasal polyps 
690 |a Obstructive sleep apnea 
690 |a Nasal obstruction 
690 |a Endoscopic surgery 
690 |a Case report 
690 |a Pediatrics 
690 |a RJ1-570 
655 7 |a article  |2 local 
786 0 |n Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-3 (2023) 
787 0 |n https://doi.org/10.1186/s13052-023-01454-3 
787 0 |n https://doaj.org/toc/1824-7288 
856 4 1 |u https://doaj.org/article/efcfeab4e6fb4f649fb1afb4b7e825c9  |z Connect to this object online.