Bilateral pulmonary agenesis: association with the hydrolethalus syndrome and review of the literature from a developmental field perspective

Am J Med Genet. 1985 May;21(1):93-103. doi: 10.1002/ajmg.1320210114.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Female
  • Humans
  • Hydrocephalus / genetics
  • Hypertelorism / genetics
  • Infant, Newborn
  • Lung / abnormalities*
  • Syndrome