Home > E. Pathology by systems > Respiratory system > Trachea and bronchi > tracheal agenesis
tracheal agenesis
Monday 13 November 2006
Definition: tracheal agenesis is one of the tracheal malformations. Malformations seen with tracheal agenesis form patterns which overlap with VACTERL association but are distinct it.
Complete tracheal agenesis is a lethal anomaly. However, segmental forms may be correctable and, the nature of associated anomalies may determine long-term prognosis.
Associations
other lower respiratory tract anomalies
- laryngeal atresia
- lung lobation defects
- complex cardiac malfomations
Clustering group
CG1 (male excess)
- trachea
- larynx
- cardiovascular system
CG2 (male excess)
- severe cardiac defects
- lung lobation anomalies
CG3 (male excess)
- caudal component
- thoracic anomalies
- anal
- renal anomalies
CG4 (no male excess)
- multisystem involvement
- high incidence of aberrant vessels
- complex cardiac malformations
- lung lobation defects
- anomalies of other foregut derivatives
Physiopathology
increasingly severe perturbations in development fields encompassing the developing respiratory tract
disturbance in the primary development field during blastogenesis with secondary vascular disruptions
abnormal epithelial-mesenchymal interactions
Etiology
unknown
heterogenous
See also
malformation cluster analysis
malformative clustering groups
References
Evans JA, Greenberg CR, Erdile L. Tracheal agenesis revisited: analysis of associated anomalies. Am J Med Genet. 1999 Feb 19;82(5):415-22. PMID: 10069714