Abstract
Three unrelated patients with identical radiological features are presented. Hypotonia was noted at birth and one patient was diagnosed as having congenital fibre type disproportion in the neonatal period. Later muscle biopsies, however, were entirely normal. All patients, now in their teens and twenties, are of normal intelligence, show striking epiphyseal and metaphyseal changes of the long bones, and have joint laxity and multiple dislocations of large joints, which are particularly incapacitating at the knees. These three cases represent a sporadic, previously unreported skeletal dysplasia with spondyloepimetaphyseal distribution and multiple large joint dislocations.
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- Beighton P., Gericke G., Kozlowski K., Grobler L. The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity. Clin Genet. 1984 Oct;26(4):308–317. doi: 10.1111/j.1399-0004.1984.tb01065.x. [DOI] [PubMed] [Google Scholar]
- Beighton P., Kozlowski K., Gericke G., Wallis G., Grobler L. Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder. S Afr Med J. 1983 Nov 5;64(20):772–775. [PubMed] [Google Scholar]
- Beighton P., Kozlowski K. Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. Skeletal Radiol. 1980;5(4):205–212. doi: 10.1007/BF00580591. [DOI] [PubMed] [Google Scholar]
- Beighton P. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). J Med Genet. 1994 Feb;31(2):136–140. doi: 10.1136/jmg.31.2.136. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Camera G., Camera A., Pozzolo S., Costa P. Sponastrime dysplasia: report on a male patient. Pediatr Radiol. 1994;24(5):322–324. doi: 10.1007/BF02012115. [DOI] [PubMed] [Google Scholar]
- Langer L. O., Jr, Beals R. K., Scott C. I., Jr Sponastrime dysplasia: diagnostic criteria based on five new and six previously published cases. Pediatr Radiol. 1997 May;27(5):409–414. doi: 10.1007/s002470050157. [DOI] [PubMed] [Google Scholar]