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.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.