Sindrome di Nievergelt o Nanismo Mesomelico di Nievergelt OMIM 163400

Sindrome di Nievergelt o Nanismo Mesomelico di Nievergelt  OMIM 163400

La Sindrome di Nievergelt o nanismo mesomelico di Nievergelt è caratterizzato da ipoplasia del radio, dell'ulna, della tibia e della fibula. Si associa piede torto. La tibia assume forma romboide. La fibula è più grande della tibia. 
La malattia è autosomica dominante.
 
 Bibliografia

Dubois, H. J. Nievergelt-Pearlman syndrome: synostosis in feet and hands with dysplasia of elbows: report of a case. J. Bone Joint Surg. Br. 52: 325-329, 1970. 
Hess, O. M., Goebel, N. H., Streuli, R. Familiarer mesomeler Kleinwuchs (Nievergelt-Syndrom). Schweiz. Med. Wschr. 108: 1202-1206, 1978. 
Nakamura, M., Matsuda, Y., Higo, M., Nishimura, G. A family with an autosomal dominant mesomelic dysplasia resembling mesomelic dysplasia Savarirayan and Nievergelt types. Am. J. Med. Genet. 143A: 2079-2081, 2007.
Nievergelt, K. Positiver Vaterschaftsnachweis auf grund erblicher Missbildungen der Extremitaeten. Arch. Klaus Stift. Vererbungsforsch. 19: 157 only, 1944.
Solonen, K. A., Sulamaa, M. Nievergelt syndrome and its treatment: a case report. Ann. Chir. Gynaec. Fenn. 47: 142-147, 1958. 
Tuysuz, B., Zeybek, C., Zorer, G., Sipahi, O., Ungur, S. Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts. Am. J. Med. Genet. 109: 206-210, 2002. 
Urban, M., Kruger, S. Alice Vance ('Das Baerenweib'): a historical case of Nievergelt syndrome. Am. J. Med. Genet. 76: 145-149, 1998. 
Young, L. W., Wood, B. P. Nievergelt syndrome (mesomelic dwarfism-type Nievergelt). Birth Defects Orig. Art. Ser. 10(5): 81-86, 1974.