Displasia spondiloepimetafisaria con lassità articolare, tipo leptodattilico OMIM 603546

Displasia spondiloepimetafisaria con lassità articolare, tipo leptodattilico  OMIM 603546

E' una displasia scheletrica rara legata a mutazioni del gene KIF22 che mappa sul cromosoma 16p11. E' caratterizzata da bassa statura e lassità legamentosa generalizzata. Le caratteristiche ecografiche sono micromelia moderata, ipoplasia medio facciale, ginocchio valgo e/o varo, lievi deformità della colonna vertebrale.

Bibliografia

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., MacDermot, K. D., Offiah, A. C., Winter, R. M. Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance. (Letter) J. Med. Genet. 39: 666-670, 2002.
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.
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Megarbane, A., Ghanem, I., Le Merrer, M. Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature. Am. J. Med. Genet. 122A: 252-256, 2003.
Rossi, M., De Brasi, D., Hall, C. M., Battagliese, A., Melis, D., Sebastio, G., Andria, G. A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). Clin. Dysmorph. 14: 13-18, 2005.