Bilateral pulmonary agenesis: association with the hydrolethalus syndrome and review of the literature from a developmental field perspective.
Only a few cases of bilateral pulmonary agenesis have been reported. Recently we saw such a case in an infant with the hydrolethalus syndrome. This observation seems to indicate that bilateral pulmonary agenesis is a severe expression of a developmental field defect that usually is represented by abnormal lung lobation or hypoplasia. The previously reported cases are discussed from the perspective of the developmental field concept.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D006972:Hypertelorism / Q000235:genetics; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D013577:Syndrome