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A new family showing dysplasia spondyloepiphisaria tarda*

Published online by Cambridge University Press:  01 August 2014

H. Sieweke
H. Sieweke*
Affiliation:
Städt. Krankenanstalten in Stade/Elbe (Deutschland) Institut für Humangenetik der Universität Kiel

Summary

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A family with dysplasia spondylo-epiphysaria tarda is reported. This dysostosis clearly differs both clinically and genetically from Morquio's disease. The onset is at the age of ten or later. The skeleton deformation concerns mainly the vertebral column and lesser the thorax and pelvis. In the course of life the degeneration increases slowly. Eleven male members of this family were affected and out of these eight have been examined. An X-linked-recessive inheritance is suggested. The remarkable clinical and genetical analogy with the families described in the literature justifies the assumption that the dysplasia spondylo-epiphysaria tarda be an independent disease clearly differing from Morquio's one (Lamy and Maroteaux).

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 15 , Issue 1 , January 1966 , pp. 69 - 78
Copyright
Copyright © The International Society for Twin Studies 1966

Footnotes

*

Herrn Prof. Dr. O. Freihrn. v. Verschuer. Münster, zum 70. Geburtstag gewidmet.

References

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