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Oro-dental manifestations of the Schwartz-Jampel syndrome

  • L.X.G. Stephen1
  • P.H. Beighton2

1Dental Genetic Unit, Department of Oral Medicine and Periodontology, Faculty of Dentistry, University of the Western Cape, Cape Town, South Africa

2Department of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa

DOI: 10.17796/jcpd.27.1.923863w781k61p83 Vol.27,Issue 1,January 2003 pp.67-70

Published: 01 January 2003

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Abstract

A boy with the Schwartz-Jampel syndrome (chondrodystrophic myotonia) had a number of oro-dental complications.These included difficulty in tooth extraction and orthodontic care due to a small oral aper-ture and rigidity of the temporo-mandibular joints. General anaesthesia was hazardous because of a propensity to malignant hyperthermia, and endotracheal intubation was difficult because of shortness and rigidity of the neck and the small size of the laryngeal structures. Awareness of these potential prob-lems is crucial for anaesthesia and comprehensive dental management. The radiological demonstration of dentigerous cysts is a hitherto unreported observation in this disorder.


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L.X.G. Stephen,P.H. Beighton. Oro-dental manifestations of the Schwartz-Jampel syndrome. Journal of Clinical Pediatric Dentistry. 2003. 27(1);67-70.

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https://www.jocpd.com/articles/10.17796/jcpd.27.1.923863w781k61p83

References

1. Gorlin RJ, Cohen MM, Levin LS. Chondrodystrophic myotonia. In: Syndromes of the Head and neck. 3rd ed. New York, Oxford University Press, pp. 631-633, 1990.

2. Viljoen D, Beighton P. Schwartz-Jampel syndrome (chondrodys-trophia myotonica). J Med Genet 29: 58-62, 1992.

3. Schwartz O, Jampel RS. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthal 68: 52-57, 1962.

4. Beighton P. The Schwartz syndrome in Southern Africa. Clin Genet 4: 548-555, 1973.

5. Giedion A, Boltshauser E, Briner et al. Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Europ J Pediat 156: 214-223, 1997.

6. Nicole S, Ben Hamida C, Beighton P et al. Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping. Hum Mol Genet 4: 1633-1636, 1995.

7. Fontaine B, Nicole S,Topaloglu H, et al. Recessive Schwartz-Jam-pel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval. Hum Genet 98: 380-385, 1996.

8. Nicole S, Davoine C-S, Topaloglu H, et al. Perlecan, the major proteoglycan of basement membranes, is altered in Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nature Genet-ics 26: 480-483, 2000.

9. Horan F, Beighton P. Orthopaedic aspects of the Schwartz syn-drome. J Bone Joint Surg 57-A: 542-544, 1975.

10. Seay AR, Ziter FA. Malignant hyperpyrexia in a patient with Schwartz-Jampel syndrome. J Pediatr 93: 83-84, 1983.

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