Familial isolated pulmonary hypoplasia: a case report, suggesting autosomal recessive inheritance.
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.
Frey
B
B
Intensive Care Unit, University Children's Hospital, Inselspital, Berne, Switzerland.
Fleischhauer
A
A
Gersbach
M
M
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