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Article type: Case Report
Authors: Clive, B.a; * | Corsten, G.b | Penney, L.S.a | Van den Hof, M.c | El-Naggar, W.a
Affiliations: [a] Department of Pediatrics, Dalhousie University, Halifax, Canada | [b] Department of Pediatric Otolaryngology, Dalhousie University, Halifax, Canada | [c] Department of Obstetrics & Gynecology, Dalhousie University, Halifax, Canada
Correspondence: [*] Address for correspondence: Breanna Clive, IWK Health Centre, 5850-5980 University Avenue, Halifax, NS B3K 6R8, Canada. Tel.: +1 902 449 5774; Fax: +1 902 470 6469; E-mail: bclive@alumni.ubc.ca.
Abstract: Chromosome 22q11.2 deletion syndrome is common and presents with a range of clinical features from cardiac malformations to hypocalcemia. Laryngeal anomalies are not a common feature of this syndrome. We describe newly born twins who presented with unexpected severe birth depression secondary to severe type IV glottic webs requiring extensive resuscitation and emergency tracheostomy. They were diagnosed postnatally to have deletion of 22q11.2. The successful resuscitation of these infants at birth was only possible because they were born in a tertiary care hospital. This report shows the critical nature of prenatal diagnosis of 22q11.2 deletion syndrome.
Keywords: 22q11.2 deletion, DiGeorge syndrome, velocardiofacial syndrome, larynx, congenital high airway obstruction
DOI: 10.3233/NPM-16915068
Journal: Journal of Neonatal-Perinatal Medicine, vol. 9, no. 2, pp. 223-226, 2016
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