Abstract
Schwartz-Jampel syndrome is a rare autosomal recessive disorder. Joint contractures, generalised myotonia, skeletal anomalies, and facial dysmorphism are common features; malignant hyperthermia is a potentially lethal complication during anaesthesia.
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- Beighton P. The schwartz syndrome in southern africa. Clin Genet. 1973 Jun;4(6):548–555. doi: 10.1111/j.1399-0004.1973.tb01944.x. [DOI] [PubMed] [Google Scholar]
- Farrell S. A., Davidson R. G., Thorp P. Neonatal manifestations of Schwartz-Jampel syndrome. Am J Med Genet. 1987 Aug;27(4):799–805. doi: 10.1002/ajmg.1320270409. [DOI] [PubMed] [Google Scholar]
- Horan F., Beighton P. Orthopaedic aspects of the Schwartz syndrome. J Bone Joint Surg Am. 1975 Jun;57(4):542–544. [PubMed] [Google Scholar]
- Hunziker U. A., Savoldelli G., Boltshauser E., Giedion A., Schinzel A. Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation. Prenat Diagn. 1989 Feb;9(2):127–131. doi: 10.1002/pd.1970090208. [DOI] [PubMed] [Google Scholar]
- Kozlowski K., Wise G. Spondylo-epi-metaphyseal dysplasia with myotonia. A radiographic study. (Catel-Hempel syndrome, Schwarz-Jampel syndrome, Aberfeld syndrome, chondrodystrophic myotonia). Radiol Diagn (Berl) 1974;15(6):817–824. [PubMed] [Google Scholar]
- Lehmann-Horn F., Iaizzo P. A., Franke C., Hatt H., Spaans F. Schwartz-Jampel syndrome: II. Na+ channel defect causes myotonia. Muscle Nerve. 1990 Jun;13(6):528–535. doi: 10.1002/mus.880130609. [DOI] [PubMed] [Google Scholar]
- SCHWARTZ O., JAMPEL R. S. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol. 1962 Jul;68:52–57. doi: 10.1001/archopht.1962.00960030056011. [DOI] [PubMed] [Google Scholar]
- Seay A. R., Ziter F. A. Malignant hyperpyrexia in a patient with Schwartz-Jampel syndrome. J Pediatr. 1978 Jul;93(1):83–84. doi: 10.1016/s0022-3476(78)80609-x. [DOI] [PubMed] [Google Scholar]
- Spaans F., Theunissen P., Reekers A. D., Smit L., Veldman H. Schwartz-Jampel syndrome: I. Clinical, electromyographic, and histologic studies. Muscle Nerve. 1990 Jun;13(6):516–527. doi: 10.1002/mus.880130608. [DOI] [PubMed] [Google Scholar]