Sindrome di Zimmer - Tetraamelia Syndrome OMIM 273395
Sindrome di Zimmer - Tetraamelia Syndrome OMIM 273395
E' un difetto congenito raro (20 casi) caratterizzato da tetraamelia e malformazioni interessanti vari organi ed apparati.
Oltre la tetraamelia sono quindi presenti:
Anomalie cranio-facciali: micrognazia, orecchie ad impianto basso, microftalmia, narice singola, labiopalatoschisi.
Anomalie cardiache: difetti settali.
Anomalie addome: gastroschisi, agenesia splenica, atresia anale.
Anomalie apparato genito-urinario: assenza genitali esterni, ovaie rudimentali, agenesia renale, atresia ureterale, agenesia surrene.
Anmalie SNC: anencefalia, idrocefalia.
E' trasmessa con modalità autosomica recessiva e legata a mutazione del gene WNT3 sul cromosoma 17q21.
Bibliografia
Basaran, S., Yuksel, A., Ermis, et al. Tetra-amelia, lung hypo-/aplasia, cleft lip-palate, and heart defect: a new syndrome? Am. J. Med. Genet. 51: 77-80, 1994.
Bermejo-Sanchez, E., Cuevas, L., Amar, E. et al. Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. Am. J. Med. Genet. C Semin. Med. Genet. 157C: 288-304, 2011.
Gershoni-Baruch, R., Drugan, A., Bronshtein, M., Zimmer, E. Z. Roberts syndrome or 'X-linked amelia'? Am. J. Med. Genet. 37: 569-572, 1990.
Kosaki, K., Jones, M. C., Stayboldt, C. Zimmer phocomelia: delineation by principal coordinate analysis. Am. J. Med. Genet. 66: 55-59, 1996.
Krahn, M., Julia, S., Sigaudy, S. et al. Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes. (Letter) Clin. Genet. 68: 558-560, 2005.
Rosenak, D., Ariel, I., Arnon, J. et al.Recurrent tetraamelia and pulmonary hypoplasia with multiple malformations in sibs. Am. J. Med. Genet. 38: 25-28, 1991.
Sousa, S. B., Pina, R., Ramos, et al. Tetra-amelia and lung hypo/aplasia syndrome: new case report and review. Am. J. Med. Genet. 146A: 2799-2803, 2008.
Zimmer, E. Z., Taub, E., Sova, Y., Divon, M. Y., Pery, M., Peretz, B. A. Tetra-amelia with multiple malformations in six male fetuses in one kindred. Europ. J. Pediat. 144: 412-414, 1985.