Fig. 1. Pedigree of Cases 1 and 2 and prenatal and postnatal images of affected fetuses.

a Pedigree of Case 1. b, c Prenatal ultrasonographic images of Case 1 at 18⁺² weeks of gestation. d Pedigree of Case 2. e, f Prenatal ultrasonographic images of Case 2 at 18⁺¹ weeks of gestation. The arrow indicates the pterygium at the elbow joints. g Prenatal ultrasonographic images of Case 2 at 23⁺¹ weeks of gestation. h Postnatal autopsy radiograph of Case 2. i, j Postnatal gross images of Case 2.