Agenesis of the trachea: phenotypic expression of a rare cause of fatal neonatal respiratory insufficiency in six patients.
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.
Felix
Janine F
JF
Department of Pediatric Surgery, Erasmus MC - Sophia Children's Hospital, Rotterdam, the Netherlands.
van Looij
Marjolein A J
MA
Pruijsten
Ralph V
RV
de Krijger
Ronald R
RR
de Klein
Annelies
A
Tibboel
Dick
D
Hoeve
Hans L J
HL
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*