Total Tracheopulmonary Agenesis Associated with Asplenia, Agenesis of Umbilical Artery and Other Anomalies

Abstract

Summary A case of bilateral pulmonary agenesis and the first of total tracheopulmonary agenesis, is reported. In addition to absence of the lower portion of the larynx, trachea and lungs, there were several cardiac abnormalities, including a common atrio‐ventricular valve, persistent ostium primum, interventricular septa1 defect, truncus arteriosus and absence of both pulmonary trunk and arteries. Additional malformations present included a persistent left superior vena cava, left azygos vein, absence of the spleen, gastric hypoplasia and a hemivertebra. The embryology of the defects in the present case is discussed with particular reference to their time of onset and causation and the important findings compared with those of previously published cases. It is suggested that inception of splenic development may occur earlier than has previously been postulated.

Bilateral pulmonary agenesis and microphthalmia

“…1958; Devi and More, 1966;DeBuse and Morris, 1973;Toriello et al, 19851. Pulmonary arteries or a pulmonary trunk were noted in all but 2 [Oyamada et al, 1953;Claireaux and Ferreira, 19581.…”

Single, mediastinal, unilobar lung -a rare form of subtotal pulmonary agenesis

“…Primary embryologic defects of the respiratory tract wherein there is too little lung tissue range from mild forms such as hypogenetic lung syndrome [4] (scimitar syndrome) to unilateral pulmonary agenesis [5][6][7][8] or complete pulmonary agenesis [9][10][11][12]. Agenesis of one or both lungs is a rare developmental defect, the true incidence of which is unknown.…”

“…Complete bilateral pulmonary agenesis is rare but is uniformly fatal within the first hours of life. The diagnosis is usually discovered at autopsy [9][10][11][12].…”

Pulmonary and diaphragmatic agenesis: Report of affected sibs

“…To date, only 10 cases have been published [Roderer, 1754;Schmit, 1893;Saito, 1902;Allen and Affelbach, 1925;Tuynman and Gardner, 1952;Claireaux and Ferreira, 1958;Devi and More, 1966; DeBuse and Morris, 1973; Ostor et al, 19781. As far as is known, none had affected sibs, and none had agenesis of the diaphragm.…”