Displasia spondiloepimetafisaria con arti corti e anomala calcificazione OMIM 271665

Displasia spondiloepimetafisaria con arti corti e anomala calcificazione  OMIM  271665

E' una displasia scheletrica rara causata da mutazioni del gene DDR2 che mappa sul cromosoma 1q23. E' caratterizzata da bassa statura con micromelia moderata, brachidattilia, naso piccolo, ipertelorismo, micrognazia, torace stretto, platispondilia.

Bibliografia 

Al-Gazali, L. I., Bakalinova, D., Sztriha, L. Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type. Clin. Dysmorph. 5: 197-206, 1996.
Bargal, R., Cormier-Daire, V., Ben-Neriah, Z., Le Merrer, M., Sosna, J., Melki, J., Zangen, D. H., Smithson, S. F., Borochowitz, Z., Belostotsky, R., Raas-Rothschild, A. Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. Am. J. Hum. Genet. 84: 80-84, 2009.
Borochowitz, Z., Langer, L. O., Jr., Gruber, H. E., Lachman, R., Katznelson, M. B.-M., Rimoin, D. L. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology. Am. J. Med. Genet. 45: 320-326, 1993.
Langer, L. O., Jr., Wolfson, B. J., Scott, C. I., Jr., Reid, C. S., Schidlow, D. V., Millar, E. A., Borns, P. F., Lubicky, J. P., Carpenter, B. L. M. Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features. Am. J. Med. Genet. 45: 488-500, 1993.
Smithson, S. F., Grier, D., Hall, C. M. Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. Clin. Dysmorph. 18: 31-35, 2009.