title: Novel airway findings in a patient with 1p36 deletion syndrome.
abstract: 1p36 deletion syndrome comprises a phenotypic presentation that includes central nervous system, cardiac, and craniofacial anomalies. There has been no report of associated airway anomalies with this syndrome. We present here a case report and literature review. Prenatally, amniocentesis for chromosomal analysis was performed on our patient, with results consistent with 1p36 deletion syndrome. Respiratory distress and unsuccessful attempts at intubation prompted transfer to Children's Hospital of Colorado. Microlaryngoscopy was subsequently performed, revealing a persistent buccopharyngeal membrane and unidentifiable larynx. Emergent tracheostomy was then performed to secure the airway. Airway anomalies may be associated with 1p36 deletion syndrome.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, University of Colorado, Aurora, CO, United States. Electronic address: Geoffrey.ferril@ucdenver.edu.
authors.forename: Geoffrey R
authors.initials: GR
authors.lastname: Ferril
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, University of Colorado, Aurora, CO, United States.
authors.forename: Henry P
authors.initials: HP
authors.lastname: Barham
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, University of Colorado, Aurora, CO, United States; Department of Pediatric Otolaryngology, Children's Hospital Colorado, Aurora, CO, United States.
authors.forename: Jeremy D
authors.initials: JD
authors.lastname: Prager
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis* / Q000235:genetics; D012140:Respiratory Tract Diseases / Q000175:diagnosis* / Q000235:genetics
keywords: 1p36 deletion syndrome; Airway