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Kyphomelic dysplasia in two sib fetuses.
  1. C P Chen,
  2. S R Chern,
  3. S L Shih,
  4. C Y Chuang,
  5. F Y Huang
  1. Department of Obstetrics and Gynaecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.

    Abstract

    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.

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