Abstract
The clinical and pathological features of two sisters born from consanguineous parents and affected by the rare Schwartz-Jampel syndrome are reported. The parental consanguinity of these two patients and the findings of electromyographic changes in the mother strongly support an autosomal recessive pattern of inheritance. No response of growth hormone secretion to arginine and insulin stimulation tests was found.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Aberfeld D. C., Hinterbuchner L. P., Schneider M. Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome). Brain. 1965 Jun;88(2):313–322. doi: 10.1093/brain/88.2.313. [DOI] [PubMed] [Google Scholar]
- Aberfeld D. C., Namba T., Vye M. V., Grob D. Chondrodystrophic myotonia: report of two cases. Myotonia, dwarfism, diffuse bone disease, and unusual ocular and facial abnormalities. Arch Neurol. 1970 May;22(5):455–462. doi: 10.1001/archneur.1970.00480230073009. [DOI] [PubMed] [Google Scholar]
- 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]
- Fowler W. M., Jr, Layzer R. B., Taylor R. G., Eberle E. D., Sims G. E., Munsat T. L., Philippart M., Wilson B. W. The Schwartz-Jampel syndrome. Its clinical, physiological and histological expressions. J Neurol Sci. 1974 May;22(1):127–146. doi: 10.1016/0022-510x(74)90060-4. [DOI] [PubMed] [Google Scholar]
- Greze J., Baldet P., Dumas R., Cadilhac J., Pages A., Jean R. Dystrophie osteo-chondro-musculaire de Schwartz-jampel. Arch Fr Pediatr. 1975 Jan;32(1):59–75. [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]
- Huttenlocher P. R., Landwirth J., Hanson V., Gallagher B. B., Bensch K. Osteo-chondro-muscular dystrophy. A disorder manifested by multiple skeletal deformities, myotonia, and dystrophic changes in muscle. Pediatrics. 1969 Dec;44(6):945–958. [PubMed] [Google Scholar]
- Kirschner B. S., Pachman L. M. Letter: IgA deficiency and recurrent pneumonia in the Schwartz-jampel syndrome. J Pediatr. 1976 Jun;88(6):1060–1061. doi: 10.1016/s0022-3476(76)81082-7. [DOI] [PubMed] [Google Scholar]
- Mereu T. R., Porter I. H., Hug G. Myotonia, shortness of stature, and hip dysplasia. Schwartz-Jampel syndrome. Am J Dis Child. 1969 Apr;117(4):470–478. doi: 10.1001/archpedi.1969.02100030472016. [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]
- Saadat M., Mokfi H., Vakil H., Ziai M. Schwartz syndrome: myotonia with blepharophimosis and limitation of joints. J Pediatr. 1972 Aug;81(2):348–350. doi: 10.1016/s0022-3476(72)80310-x. [DOI] [PubMed] [Google Scholar]
- Taylor R. G., Layzer R. B., Davis H. S., Fowler W. M., Jr Continuous muscle fiber activity in the Schwartz-Jampel syndrome. Electroencephalogr Clin Neurophysiol. 1972 Nov;33(5):497–509. doi: 10.1016/0013-4694(72)90213-1. [DOI] [PubMed] [Google Scholar]
- van Huffelen A. C., Gabreels F. J., Luypen-vd Horst J. S., Slooff J. L., Stadhouders A. M., Korten J. J. Chondrodystrophic myotonia. A report of two unrelated Dutch patients. Neuropadiatrie. 1974 Feb;5(1):71–90. doi: 10.1055/s-0028-1091690. [DOI] [PubMed] [Google Scholar]