Kyphomelic dysplasia in two sib fetuses

We present the in utero appearances and postmortem radiographic findings of two sib fetuses, a male and a female. with features suggestive of kyphomelic dysplasia. The fetuses had severe bowing of the long bones, short, flared ribs, platyspondyly, metaphyseal flaring, skin dimpling, with normal external genitalia and karyotypes and a normal pregnancy. They were born to a mother with features of brachydactyly type E. Prenatal ultrasonography of each case showed a normal amount of amniotic fluid, a normal brain, a normal biparietal diameter, symmetrical bowing and shortening of the long bones, and a narrow thorax. Our cases provide support for a familial mode of inheritance for both sexes in kyphomelic dysplasia. Prenatal ultrasound examination can be offered in subsequent pregnancies.