title: Familial isolated pulmonary hypoplasia: a case report, suggesting autosomal recessive inheritance.
abstract: The exceptional observation of a healthy couple with two girls and a boy suffering from pulmonary hypoplasia and two normal children is reported. The affected infants died 1, 2 and 20 h after birth respectively. No other malformations were found. Histological findings suggest that the underdevelopment of the lungs has its origin at a more proximal level than the terminal bronchioles. Autosomal recessive inheritance is suggested.
authors.affiliation: Intensive Care Unit, University Children's Hospital, Inselspital, Berne, Switzerland.
authors.forename: B
authors.initials: B
authors.lastname: Frey
authors.forename: A
authors.initials: A
authors.lastname: Fleischhauer
authors.forename: M
authors.initials: M
authors.lastname: Gersbach
mesh_terms: D000013:Congenital Abnormalities / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D008297:Male; D009929:Organ Size; D011650:Pulmonary Alveoli / Q000473:pathology