title: Association of airway abnormalities with 22q11.2 deletion syndrome.
abstract: BACKGROUND
  22q11.2 deletion syndrome (22q11.2DS) presents with complex but variable symptoms, including cardiac, immune, palatal, endocrine, cognitive, and psychiatric issues. However, an association of 22q11.2DS with structural airway abnormalities has not been formally described. The aim of this study was to document the frequency of this association.
  
  
  METHODS
  We retrospectively reviewed medical records of patients with 22q11.2DS evaluated in the 22q and You Center at the Children's Hospital of Philadelphia between 1999 and 2015 referred to otolaryngology for an airway assessment. Type of airway abnormality and presence of comorbidities, such as congenital heart disease, tracheostomy, and association with prenatal symptomatology such as polyhydramnios, were noted.
  
  
  RESULTS
  Of the 104 patients who underwent an otolaryngology procedure (microlaryngoscopy or bronchoscopy), 71% (n = 74) had airway abnormalities. Patients with airway abnormalities ranged in age from 5 months to 37 years, with similar prevalence among males and females. Observed airway abnormalities included tracheomalacia (36%), subglottic stenosis (28%), laryngomalacia (26%), glottic web (21%), and bronchomalacia (16%). Most patients with airway abnormalities (91%) had an associated congenital heart defect, with ventricular septal defect and Tetralogy of Fallot being the most prevalent. Importantly, 30% of patients required a tracheostomy, and overall polyhydramnios was noted in 16% of pregnancies.
  
  
  CONCLUSIONS
  Airway abnormalities are a common feature of 22q11.2DS, leading to substantial morbidity, particularly when combined with complex cardiac disease. Polyhydramnios may be an important prenatal clue to both the diagnosis of 22q11.2DS and airway anomalies. Postnatal assessment of airway structure and function among patients with 22q11.2DS is an important component of overall evaluation and will help guide long-term management.
authors.affiliation: Genetic Counseling Master's Program, Arcadia University, Glenside, PA, USA; 22q and You and Clinical Genetics Centers, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: rosalba_sacca@dfci.harvard.edu.
authors.forename: Rosalba
authors.initials: R
authors.lastname: Sacca
authors.affiliation: Pediatric Voice Program and The Center for Pediatric Airway Disorders, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Otolaryngology: Head & Neck Surgery, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Karen B
authors.initials: KB
authors.lastname: Zur
authors.affiliation: 22q and You and Clinical Genetics Centers, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: T Blaine
authors.initials: TB
authors.lastname: Crowley
authors.affiliation: 22q and You and Clinical Genetics Centers, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.affiliation: Genetic Counseling Master's Program, Arcadia University, Glenside, PA, USA.
authors.forename: Kathleen D
authors.initials: KD
authors.lastname: Valverde
authors.affiliation: 22q and You and Clinical Genetics Centers, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. Electronic address: mcginn@email.chop.edu.
authors.forename: Donna M
authors.initials: DM
authors.lastname: McDonald-McGinn
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D015897:Comorbidity; D004062:DiGeorge Syndrome / Q000150:complications*; D005260:Female; D006776:Hospitals, Pediatric; D006801:Humans; D007223:Infant; D008297:Male; D015143:Philadelphia; D011247:Pregnancy; D015995:Prevalence; D012140:Respiratory Tract Diseases / Q000150:complications / Q000151:congenital / Q000453:epidemiology*; D012189:Retrospective Studies; D055815:Young Adult
keywords: 22q11.2 deletion syndrome; Airway anomalies; Larynx; Polyhydramnios; Trachea