title: Severe laryngeal stenosis in newly born twins with 22q11.2 deletion syndrome: A case report.
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.
authors.affiliation: Department of Pediatrics, Dalhousie University, Halifax, Canada.
authors.forename: B
authors.initials: B
authors.lastname: Clive
authors.affiliation: Department of Pediatric Otolaryngology, Dalhousie University, Halifax, Canada.
authors.forename: G
authors.initials: G
authors.lastname: Corsten
authors.affiliation: Department of Pediatrics, Dalhousie University, Halifax, Canada.
authors.forename: L S
authors.initials: LS
authors.lastname: Penney
authors.affiliation: Department of Obstetrics & Gynecology, Dalhousie University, Halifax, Canada.
authors.forename: M
authors.initials: M
authors.lastname: Van den Hof
authors.affiliation: Department of Pediatrics, Dalhousie University, Halifax, Canada.
authors.forename: W
authors.initials: W
authors.lastname: El-Naggar
mesh_terms: D058165:22q11 Deletion Syndrome / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D000328:Adult; D004200:Diseases in Twins / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D005220:Fathers; D005260:Female; D006801:Humans; D007036:Hypothermia, Induced / Q000379:methods*; D007231:Infant, Newborn; D007828:Laryngoscopy; D007829:Laryngostenosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D011247:Pregnancy; D059285:Pregnancy, Twin; D012720:Severity of Illness Index; D014139:Tracheostomy / Q000379:methods*; D016896:Treatment Outcome; D014427:Twins
keywords: 22q11.2 deletion; DiGeorge syndrome; congenital high airway obstruction; larynx; velocardiofacial syndrome