Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): New syndrome or association?

Michal Berkenstadt, Lev Dorit, Reuven Achiron, Mordechay Rosner, Gad Barkai

Research output: Contribution to journalArticlepeer-review


We present the prenatal diagnosis of a 22-week-gestation fetus with unilateral pulmonary agenesis, diaphragmatic hernia, microphthalmia, pulmonary vessel agenesis, and intrauterine growth retardation. The 'association' of pulmonary agenesis, diaphragmatic defect, and microphthalmia was described previously in two patients but the resemblance was not noted by the authors. While each case differs slightly in some of the associated anomalies, it is evident that the mainstay of diagnosis is similar to the case presented here and that this represents a new syndrome or association.

Original languageEnglish
Pages (from-to)6-8
Number of pages3
JournalAmerican Journal of Medical Genetics
Issue number1
StatePublished - 1999
Externally publishedYes


  • Association
  • Diaphragmatic defect
  • Microphthalmia
  • Prenatal diagnosis
  • Pulmonary agenesis
  • Syndrome


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