Article Menu

Export Article

More by Authors Links

Article Data

  • Views 700
  • Dowloads 152

Original Research

Open Access

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

PDF (92.43 kB) View Full-text

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.


Cite and Share

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.

URL:

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.

Abstracted / indexed in

Science Citation Index Expanded (SciSearch) Created as SCI in 1964, Science Citation Index Expanded now indexes over 9,500 of the world’s most impactful journals across 178 scientific disciplines. More than 53 million records and 1.18 billion cited references date back from 1900 to present.

Biological Abstracts Easily discover critical journal coverage of the life sciences with Biological Abstracts, produced by the Web of Science Group, with topics ranging from botany to microbiology to pharmacology. Including BIOSIS indexing and MeSH terms, specialized indexing in Biological Abstracts helps you to discover more accurate, context-sensitive results.

Google Scholar Google Scholar is a freely accessible web search engine that indexes the full text or metadata of scholarly literature across an array of publishing formats and disciplines.

JournalSeek Genamics JournalSeek is the largest completely categorized database of freely available journal information available on the internet. The database presently contains 39226 titles. Journal information includes the description (aims and scope), journal abbreviation, journal homepage link, subject category and ISSN.

Current Contents - Clinical Medicine Current Contents - Clinical Medicine provides easy access to complete tables of contents, abstracts, bibliographic information and all other significant items in recently published issues from over 1,000 leading journals in clinical medicine.

BIOSIS Previews BIOSIS Previews is an English-language, bibliographic database service, with abstracts and citation indexing. It is part of Clarivate Analytics Web of Science suite. BIOSIS Previews indexes data from 1926 to the present.

Journal Citation Reports/Science Edition Journal Citation Reports/Science Edition aims to evaluate a journal’s value from multiple perspectives including the journal impact factor, descriptive data about a journal’s open access content as well as contributing authors, and provide readers a transparent and publisher-neutral data & statistics information about the journal.

Scopus: CiteScore 2.0 (2022) Scopus is Elsevier's abstract and citation database launched in 2004. Scopus covers nearly 36,377 titles (22,794 active titles and 13,583 Inactive titles) from approximately 11,678 publishers, of which 34,346 are peer-reviewed journals in top-level subject fields: life sciences, social sciences, physical sciences and health sciences.

Submission Turnaround Time

Conferences

Top