Displasia spondiloepimetafisaria con lassità articolare OMIM 271640

Displasia spondiloepimetafisaria con lassità articolare  OMIM 271640

E' una displasia scheletrica caratterizzata da micromelia, lussazione congenita dell'anca, piedi torti, brachidattilia; possono essere presenti palatoschisi,cardiopatie congenite, platispondilia.

Bibliografia

Beighton, P. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). J. Med. Genet. 31: 136-140, 1994.
Beighton, P., Gericke, G., Kozlowski, K., Grobler, L. The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity. Clin. Genet. 26: 308-317, 1984.
Beighton, P., Kozlowski, K. Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. Skeletal Radiol. 5: 205-212, 1980.
Hall, C. M., Elcioglu, N. H., Shaw, D. G. A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. J. Med. Genet. 35: 566-572, 1998.
Kozlowski, K., Beighton, P. Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Fortschr. Roentgenstr. 141: 337-341, 1984.
Pina-Neto, J. M., Defino, H. L. A., Guedes, M. L., Jorge, S. M. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case. Am. J. Med. Genet. 61: 131-133, 1996.
Superti-Furga, A., Unger, S., the Nosology Group of the International Skeletal Dysplasia Society. Nosology and classification of genetic skeletal disorders: 2006 revision. Am. J. Med. Genet. 143A: 1-18, 2007.
Torrington, M., Beighton, P. The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa. Clin. Genet. 39: 210-213, 1991.
Tsirikos, A. I., Mason, D. E., Scott, C. I., Jr., Chang, W.-N. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). Am. J. Med. Genet. 119A: 386-390, 2003.