{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T19:33:43Z","timestamp":1764963223236,"version":"3.46.0"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,1,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_crpm-2022-0033_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To present an unusual presentation and diagnosis of CHARGE syndrome with vocal fold paralysis, a rarely associated congenital laryngeal anomaly, as the presenting feature.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2022-0033_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>A four-day old, full-term, male infant born via uncomplicated vaginal delivery with a nursery course significant for failed hearing screen presented to an emergency department (ED) with respiratory distress and worsening stridor. He was transferred to a level III neonatal intensive care unit (NICU) for further evaluation and required intubation due to progressive hypercarbia. Laryngoscopy revealed left-sided unilateral vocal fold paralysis (VFP). He underwent further evaluation that included a normal MRI brain, neck and chest. Genetics was consulted with concern for dysmorphic features on physical exam. Following gene panel testing, VFP was attributed to known association with CHARGE syndrome. Airway edema was noted on laryngoscopy that prevented extubation until two months of age. Further features of CHARGE syndrome identified included colobomas, glaucoma, sensorineural hearing loss, and genital abnormalities. He was discharged in room air and following gastrostomy tube placement with otolaryngology follow up.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2022-0033_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Although choanal abnormalities are classically associated with CHARGE syndrome, other upper airway anomalies such as VFP may be present. VFP is a rarely reported anomaly in association with CHARGE syndrome (Naito Y, Higuchi M, Koinuma G, Aramaki M, Takahashi T, Kosaki K. Upper airway obstruction in neonates and infants with CHARGE syndrome. Am J Med Genet 2007;143A:1815\u201320; Morgan D, Bailey M, Phelps P, Bellman S, Grace A, Wyse R. Ear-nose-throat abnormalities in the CHARGE association. Arch Otolaryngol Head Neck Surg 1993;119:49\u201354).<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/crpm-2022-0033","type":"journal-article","created":{"date-parts":[[2023,5,4]],"date-time":"2023-05-04T22:17:35Z","timestamp":1683238655000},"source":"Crossref","is-referenced-by-count":0,"title":["Neonatal stridor presents at home\u00a0\u2013 vocal fold paralysis as rare presenting feature of CHARGE syndrome"],"prefix":"10.1515","volume":"12","author":[{"given":"Sierra S.","family":"Donnell","sequence":"first","affiliation":[{"name":"Department of Pediatrics , Rush University Medical Center , Chicago , IL , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan K.","family":"Kraemer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neonatology , Rush University Medical Center , Chicago , IL , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suhagi M.","family":"Kadakia","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neonatology , Rush University Medical Center , Chicago , IL , USA"},{"name":"Division of Neonatology, Fetal Neonatal Medicine Center , Rush University Children\u2019s Hospital , Chicago , IL , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,5,5]]},"reference":[{"key":"2025120518324168979_j_crpm-2022-0033_ref_003","doi-asserted-by":"crossref","unstructured":"Kaplan, J, Hudgins, L. Neonatal presentations of CHARGE syndrome and VATER\/VACTERL association. NeoReviews 2008;9:e299\u2013304. https:\/\/doi.org\/10.1542\/neo.9-7-e299.","DOI":"10.1542\/neo.9-7-e299"},{"key":"2025120518324168979_j_crpm-2022-0033_ref_001","doi-asserted-by":"crossref","unstructured":"Naito, Y, Higuchi, M, Koinuma, G, Aramaki, M, Takahashi, T, Kosaki, K. Upper airway obstruction in neonates and infants with CHARGE syndrome. Am J Med Genet 2007;143A:1815\u201320. https:\/\/doi.org\/10.1002\/ajmg.a.31851.","DOI":"10.1002\/ajmg.a.31851"},{"key":"2025120518324168979_j_crpm-2022-0033_ref_002","doi-asserted-by":"crossref","unstructured":"Morgan, D, Bailey, M, Phelps, P, Bellman, S, Grace, A, Wyse, R. Ear-nose-throat abnormalities in the CHARGE association. Arch Otolaryngol Head Neck Surg 1993;119:49\u201354. https:\/\/doi.org\/10.1001\/archotol.1993.01880130051006.","DOI":"10.1001\/archotol.1993.01880130051006"},{"key":"2025120518324168979_j_crpm-2022-0033_ref_004","doi-asserted-by":"crossref","unstructured":"Bhatt, J, Prager, JD. Neonatal stridor: diagnosis and management. Clin Perinatol 2018;45:817\u201331. https:\/\/doi.org\/10.1016\/j.clp.2018.07.015.","DOI":"10.1016\/j.clp.2018.07.015"},{"key":"2025120518324168979_j_crpm-2022-0033_ref_005","doi-asserted-by":"crossref","unstructured":"Bluher, AE, Darrow, DH. Stridor in the newborn. Pediatr Clin 2019;66:475\u201388. https:\/\/doi.org\/10.1016\/j.pcl.2018.12.013.","DOI":"10.1016\/j.pcl.2018.12.013"},{"key":"2025120518324168979_j_crpm-2022-0033_ref_006","doi-asserted-by":"crossref","unstructured":"Ryan, MA, Upchurch, PA, Senekki-Florent, P. Neonatal vocal fold paralysis. NeoReviews 2020;21:e308\u201322. https:\/\/doi.org\/10.1542\/neo.21-5-e308.","DOI":"10.1542\/neo.21-5-e308"},{"key":"2025120518324168979_j_crpm-2022-0033_ref_007","doi-asserted-by":"crossref","unstructured":"Jabbour, J, Martin, T, Beste, D, Robey, T. Pediatric vocal fold immobility: natural history and the need for long-term follow-up. JAMA Otolaryngol Head Neck Surg 2014;140:428\u201333. https:\/\/doi.org\/10.1001\/jamaoto.2014.81.","DOI":"10.1001\/jamaoto.2014.81"},{"key":"2025120518324168979_j_crpm-2022-0033_ref_008","doi-asserted-by":"crossref","unstructured":"Yousif, S, Walsh, M, Burns, H. Bilateral vocal cord palsy causing stridor as the only symptom of syringomyelia and Chiari I malformation, a case report. Int J Surg Case Rep 2016;25:28\u201332. https:\/\/doi.org\/10.1016\/j.ijscr.2016.05.032.","DOI":"10.1016\/j.ijscr.2016.05.032"},{"key":"2025120518324168979_j_crpm-2022-0033_ref_009","doi-asserted-by":"crossref","unstructured":"Alsaleem, M, Hpa, N, Kumar, VHS. Stridor in infants with hypoxic-ischemic encephalopathy and whole body hypothermia: a case series. J Neonatal Perinat Med 2020;13:463\u20138. https:\/\/doi.org\/10.3233\/npm-190332.","DOI":"10.3233\/NPM-190332"},{"key":"2025120518324168979_j_crpm-2022-0033_ref_010","doi-asserted-by":"crossref","unstructured":"Forbes, E, Patel, N, Kasem, K. Unilateral vocal cord paralysis associated with subdural haemorrhage in a newborn infant. J Perinatol 2010;30:563\u20135. https:\/\/doi.org\/10.1038\/jp.2009.180.","DOI":"10.1038\/jp.2009.180"}],"container-title":["Case Reports in Perinatal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/crpm-2022-0033\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/crpm-2022-0033\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T19:05:17Z","timestamp":1764961517000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/crpm-2022-0033\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,1]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,4,27]]},"published-print":{"date-parts":[[2023,1,27]]}},"alternative-id":["10.1515\/crpm-2022-0033"],"URL":"https:\/\/doi.org\/10.1515\/crpm-2022-0033","relation":{},"ISSN":["2192-8959"],"issn-type":[{"type":"electronic","value":"2192-8959"}],"subject":[],"published":{"date-parts":[[2023,1,1]]},"article-number":"20220033"}}