Fig. 1.

Family tree and phenotypes of the three affected fetuses. a Family pedigree. DNA samples were available from individuals marked with blue asterisk (*) and fibroblast from those marked with green number symbol (#). b Autopsy of Fetus 1 shows absence of the lungs. White arrows indicate a very small bud of lung. White asterisk indicates the location where trachea should have been observed. Other organs are present. c Autopsy of Fetus 2 showing lung agenesis. Gallbladder was absent. d Similar to Fetus 1, empty thorax is observed in Fetuses 2 and 3