Hostname: page-component-78c5997874-s2hrs Total loading time: 0 Render date: 2024-11-20T04:29:58.905Z Has data issue: false hasContentIssue false
  • English
  • Français

Congenital Coxa Vara, Patella Aplasia and Tarsal Synostosis: A New Inherited Syndrome

Published online by Cambridge University Press:  01 August 2014

L. Goeminne  and
L. Dujardin
L. Goeminne*
Affiliation:
Medical Clinic, and Department of Human Genetics, Ophthalmologic Clinic, University of Ghent
L. Dujardin
Affiliation:
Medical Clinic, and Department of Human Genetics, Ophthalmologic Clinic, University of Ghent
*
Clinique d'Ophtalmologie de l'Université, Gand, Belgium

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 kindred is described with a probably new inherited syndrome, involving bilateral congenital hip dysplasia with coxa vara, patella aplasia and tarsal synostosis. This association is probably inherited as an incomplete dominant trait, apparently as a result of a new mutation.

In this case a single pleiotropic gene might be held responsible for the multiple skeletal defects.

From a bibliographical review, it may be concluded that the nosological association of these multiple defects has never been published so far.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 19 , Issue 4 , October 1970 , pp. 534 - 545
Copyright
Copyright © The International Society for Twin Studies 1970

References

Almond, H. G. (1956). Familial infantile coxa vara. J. Bone Joint Surg. (Amer.), 38: 539.CrossRefGoogle ScholarPubMed
Arslanian, J., Majdalani, E. (1949). Arch. Franc. Pediat., 6: 100.Google Scholar
Bersani, F. A., Samilson, R. L. (1957). Massive familial tarsal synostosis. J. Bone Joint Surg. (Amer.), 39: 1187.Google Scholar
Borgnis, G. (1952). Symmetrische Fusswurzelsynostose. Z. Orthop., 81: 620–627.Google Scholar
Chatelain, (1820). Cit. by Touraine, 1955.Google Scholar
Drewis, J. (1966). Congenital tarsal synostosis. Radiology, 6: 225–31.Google Scholar
Fuhrmann, W., Steffens, G., Rompe, G. (1966). Dominant erbliche doppelseitige Dysplasie und Synostoze des Ellenbogengelenks mit symmetrischer Brachymesophalangie und Brachymetakarpie sowie Synostozen im Finger. Humangenetik, 3: 1–64.Google Scholar
Geyer, E. (1958). Beitrag zu den Synostosenbildungen der Hand und Fusswurzel. Z. Orthop., 90: 395–408.Google Scholar
Grebe, H. (1944). Coxa vara bei eineiigen Zwillingen. Arch. Orthop. Unfallchir., 43: 309.Google Scholar
Johanning, K. (1951). Coxa vara infantum. Acta Orthop. Scand., 21: 273.Google Scholar
Kewesgh, E. L. (1934). Über hereditäre Verschmelzung der Hand- und Fusswurzelknocken. Fortschr. Röntgenstr., 50: 550–563.Google Scholar
Klapp, B., Gebhard, W. (1952). Symmetrische Synostozenbildung an Hand und Fuss. Z. Orthop., 81: 637–640.Google Scholar
Le Mesurier, A. (1951). Developmental coxa vara. J. Bone Joint Surg. (Amer.), 33: 487.Google Scholar
Little, E. M. (1897). Congenital absence or delayed development of the patella. Lancet, 2: 781.CrossRefGoogle Scholar
Schreiber, A. (1968). Symmetrische Fuss und Handwurzelsynostosen in 4 Generationen. Z. Orthop., 104: 197–202.Google Scholar
Slaby, O., Veselsky, J., Brychta, M. (1964). Familial synostosis of autopodium and a discussion of its causes. Plzen. lek. Sbor. (Cz), 23: 41.Google Scholar
Soeur, R. (1959). Le pied plat contracturé. Rev. Chir. Orthop., 45: 277–289.Google Scholar
Wray, J., Herndon, C. N. (1963). Hereditary transmission of congenital coalition of the calcaneus to the navicular. J. Bone Joint Surg. (Amer.), 45: 365.Google Scholar