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Research Article
Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome.
  1. S A Al-Awadi,
  2. A S Teebi,
  3. T I Farag,
  4. K M Naguib,
  5. M Y el-Khalifa

    Abstract

    A newly recognised profound limb deficiency malformation syndrome in two Arab sibs of different sexes with consanguineous parents is described. Additional features, which include thoracic dystrophy, unusual facies, and normal intelligence, are consistent in both of them. Autosomal recessive inheritance is suggested.

    http://dx.doi.org/10.1136/jmg.22.1.36

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