Displasia spondiloepifisiaria congenita OMIM 183900

Displasia spondiloepifisiaria congenita  OMIM 183900

E' una condrodisplasia trasmessa con carattere autosomico dominante causata da mutazioni del gene COL2A1. E' caratterizzata da severa micromelia, tronco molto corto, platispondilia, palatoschisi.

Bibliografia

Anderson, I. J., Goldberg, R. B., Marion, R. W., Upholt, W. B., Tsipouras, P. Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2A1). Am. J. Hum. Genet. 46: 896-901, 1990.
Gunthard, J., Fliegel, C., Ohnacker, H., Rutishauser, M., Buhler, E. Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia. Clin. Genet. 48: 35-40, 1995.
Harrod, M. J. E., Friedman, J. M., Currarino, G., Pauli, R. M., Langer, L. O., Jr. Genetic heterogeneity in spondyloepiphyseal dysplasia congenita. Am. J. Med. Genet. 18: 311-320, 1984.
Lee, B., Vissing, H., Ramirez, F., Rogers, D., Rimoin, D. Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. Science 244: 978-980, 1989.
Murray, L. W., Bautista, J., James, P. L., Rimoin, D. L. Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias. Am. J. Hum. Genet. 45: 5-15, 1989.
Spranger, J. W., Langer, L. O., Jr. Spondyloepiphyseal dysplasia congenita. Radiology 94: 313-322, 1970.
Spranger, J. W., Langer, L. O., Jr. Spondyloepiphyseal dysplasias. Birth Defects Orig. Art. Ser. 10: 19-61, 1974.
Sugiura, Y., Terashima, Y., Furukawa, T., Yoneda, M. Spondyloepiphyseal dysplasia congenita. Int. Orthop. 2: 47-51, 1978. 
Tiller, G. E., Rimoin, D. L., Murray, L. W., Cohn, D. H. Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. Proc. Nat. Acad. Sci. 87: 3889-3893, 1990.
Unger, S., Korkko, J., Krakow, D., Lachman, R. S., Rimoin, D. L., Cohn, D. H. Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. Am. J. Med. Genet. 104: 140-146, 2001. 
Yang, S. S., Chen, H., Williams, P., Cacciarelli, A., Misra, R. P., Bernstein, J. Spondyloepiphyseal dysplasia congenita: a comparative study of chondrocytic inclusions. Arch. Path. Lab. Med. 104: 208-211, 1980.
Young, I. D., Ruggins, N. R., Somers, J. M., Zuccollo, J. M., Rutter, N. Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita. J. Med. Genet. 29: 831-833, 1992.