title: Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): new syndrome or association?
abstract: 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.
authors.affiliation: Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.
authors.forename: M
authors.initials: M
authors.lastname: Berkenstadt
authors.forename: D
authors.initials: D
authors.lastname: Lev
authors.forename: R
authors.initials: R
authors.lastname: Achiron
authors.forename: M
authors.initials: M
authors.lastname: Rosner
authors.forename: G
authors.initials: G
authors.lastname: Barkai
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000196:embryology / Q000209:etiology / Q000235:genetics; D000328:Adult; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006548:Hernia, Diaphragmatic / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007585:Jews / Q000235:genetics; D008168:Lung / Q000002:abnormalities* / Q000098:blood supply / Q000196:embryology; D008850:Microphthalmos / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics; D009035:Mothers; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography