Hostname: page-component-586b7cd67f-2plfb Total loading time: 0 Render date: 2024-11-23T08:37:12.674Z Has data issue: false hasContentIssue false
  • English
  • Français

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

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

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

Literature

Dam, E. (1928). Zwergwuchs mit unsicherer Diagnose bei drei Brüdern. Acta Med. Scand., 68: 547.Google Scholar
Jacobsen, A. W. (1939). Hereditary osteochondrodystrophia deformans (Morquio's disease). J. Am. Med. Ass., 113: 121.Google Scholar
Lamy, M., Maroteaux, P. (1961). Les Chondrodystrophies Génotypiques. Paris.Google Scholar
Maroteaux, P. et al. (1957). La dysplasie spondylo-épiphysaire tardive. Description clinique et radiologique. Presse Méd. 65: 1205.Google Scholar
Merlen, G. (1952). Les chondrodysplasies spondylo-epiphysaires. Etude radiologique et essai de classification. Thèse, Lille, No. 1, zit nach Lamy M., u. P. Maroteaux.Google Scholar
Morquio, L. (1929). Sur une forme de dystrophie osseuse familiale. Bull. Soc. Pédiat. 27: 145. Arch. Med. Enf., 38: (1935), 5.Google Scholar
Nilsonne, H. (1927). Eigentümliche Wirbelkörperveränderungen mit familiärem Auftreten. Acta Chir. Scand., 62: 550.Google Scholar
Volhard, E., Drigalski, W. v. (1937). Über eine eigenartige familiäre Entwicklungsstörung des Rumpfskeletts. Zbl. Inn. Med., 58: 243.Google Scholar
Warot, : zit. bei Merlen G.Google Scholar