title: Agenesis of the trachea: phenotypic expression of a rare cause of fatal neonatal respiratory insufficiency in six patients.
abstract: Tracheal agenesis is a rare congenital malformation, which is usually fatal in the newborn period. Its incidence is approximately 1 in 50,000 births. Presentation is with respiratory insufficiency and no audible cry. Other anomalies are found in most cases. Six cases of tracheal agenesis were seen in our hospital since 1988. Their medical records were reviewed. Three of our cases classify as Floyd's type III, two as Floyd's type II and one as Floyd's type I. Associated anomalies were found in five cases. The classification of tracheal agenesis, associated anomalies and potential therapeutic options are discussed.
authors.affiliation: Department of Pediatric Surgery, Erasmus MC - Sophia Children's Hospital, Rotterdam, the Netherlands.
authors.forename: Janine F
authors.initials: JF
authors.lastname: Felix
authors.forename: Marjolein A J
authors.initials: MA
authors.lastname: van Looij
authors.forename: Ralph V
authors.initials: RV
authors.lastname: Pruijsten
authors.forename: Ronald R
authors.initials: RR
authors.lastname: de Krijger
authors.forename: Annelies
authors.initials: A
authors.lastname: de Klein
authors.forename: Dick
authors.initials: D
authors.lastname: Tibboel
authors.forename: Hans L J
authors.initials: HL
authors.lastname: Hoeve
mesh_terms: D001999:Bronchoscopy; D002869:Chromosome Aberrations; D004945:Esophagoscopy; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007828:Laryngoscopy; D008297:Male; D010641:Phenotype; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology*; D014132:Trachea / Q000002:abnormalities* / Q000196:embryology; D014133:Tracheal Diseases / Q000150:complications* / Q000151:congenital*