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. 1985 Feb;22(1):36–38. doi: 10.1136/jmg.22.1.36

Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome.

S A Al-Awadi, A S Teebi, T I Farag, K M Naguib, M Y el-Khalifa
PMCID: PMC1049375  PMID: 3981578

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Kühne D., Lenz W., Petersen D., Schönenberg H. Defekt von Femur und Fibula mit Amelie, Peromelie oder ulnaren Strahldefekten der Arme. Ein Syndrom. Humangenetik. 1967;3(3):244–263. doi: 10.1007/BF00273126. [DOI] [PubMed] [Google Scholar]

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