Stampa

Sindrome di Klippel-Feil OMIM 118100

Sindrome di Klippel-Feil  OMIM 118100


E' caratterizzata da brevità del collo per fusione delle vertebre cervicali e delle prime vertebre toraciche, torace a botte ed impianto basso delle orecchie. Possono essere presenti altre anomalie scheletriche: emivertebre, spina bifida, micrognazia; descritti casi con palatoschisi. Non rare le cardiopatie congenite.
La sindrome è per la maggior parte trasmessa con carattere autosomico dominante ma sono stati descritti casi a trasmissione autosomica recessiva. Il gene responsabile nella maggioranza dei casi è il gene GDF6 che mappa su 8q22.2, ma possono essere coinvolti anche altri geni.
La diagnosi ecografica prenatale, difficile, si basa sui seguenti segni:
  • collo corto
  • cifosi
  • torace a botte
  • cardiopatie
  • micrognazia
Bibliografia
 Asai-Coakwell, M., French, C. R., Ye, M., Garcha, K., Bigot, K., Perera, A. G., Staehling-Hampton, K., Mema, S. C., Chanda, B., Mushegian, A., Bamforth, S., Doschak, M. R., and 13 others. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. Hum. Molec. Genet. 18: 1110-1121, 2009.
Bauman, G. I. Absence of the cervical spine: Klippel-Feil syndrome. JAMA 98: 129-132, 1932.
Bouwes Bavinck, J. N., Weaver, D. D. Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Moebius anomalies. Am. J. Med. Genet. 23: 903-918, 1986.
Clarke, R. A., Catalan, G., Diwan, A. D., Kearsley, J. H. Heterogeneity in Klippel-Feil syndrome: a new classification. Pediat. Radiol. 28: 967-974, 1998.
Clarke, R. A., Davis, P. J., Tonkin, J. Klippel-Feil syndrome associated with malformed larynx: case report. Ann. Otol. Rhinol. Laryng. 103: 201-207, 1994.
Clarke, R. A., Singh, S., McKenzie, H., Kearsley, J. H., Yip, M.-Y. Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3). Am. J. Hum. Genet. 57: 1364-1370, 1995.
Goto, M., Nishimura, G., Nagai, T., Yamazawa, K., Ogata, T. Familial Klippel-Feil anomaly and t(5;8)(q35.1;p21.1) translocation. Am. J. Med. Genet. 140A: 1013-1015, 2006.
Gunderson, C. H., Greenspan, R. H., Glaser, G. H., Lubs, H. A. The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion. Medicine 46: 491-512, 1967.
Klippel, M., Feil, A. Un cas d'absence des vertebres cervicales avec cage thoracique remontant jusqu'a la base du crane (cage thoracique cervicale). Nouv. Iconogr. Salpet. 25: 223-250, 1912.
Matsuoka, T., Ahlberg, P. E., Kessaris, N., Iannarelli, P., Dennehy, U., Richardson, W. D., McMahon, A. P., Koentges, G. Neural crest origins of the neck and shoulder. Nature 436: 347-355, 2005.
McGaughran, J. M., Kuna, P., Das, V. Audiological abnormalities in the Klippel-Feil syndrome. Arch. Dis. Child. 79: 352-355, 1998.
Raas-Rothschild, A., Goodman, R. M., Grunbaum, M., Berger, I., Mimouni, M. Klippel-Feil anomaly with sacral agenesis: an additional subtype, type IV. J. Craniofac. Genet. Dev. Biol. 8: 297-301, 1988.
Settle, S. H., Jr., Rountree, R. B., Sinha, A., Thacker, A., Higgins, K., Kingsley, D. M. Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes. Dev. Biol. 254: 116-130, 2003.
Tassabehji, M., Fang, Z. M., Hilton, E. N., McGaughran, J., Zhao, Z., de Bock, C. E., Howard, E., Malass, M., Donnai, D., Diwan, A., Manson, F. D. C., Murrell, D., Clarke, R. A. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum. Mutat. 29: 1017-1027, 2008.
Thompson, E., Haan, E., Sheffield, L. Autosomal dominant Klippel-Feil anomaly with cleft palate. Clin. Dysmorph. 7: 11-15, 1998.
Toyoshima, M., Maegaki, Y., Yuasa, I., Ohno, K. Monozygotic twins discordant for Klippel-Feil syndrome. Pediat. Neurol. 34: 76-78, 2006.
Tracy, M. R., Dormans, J. P., Kusumi, K. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin. Orthop. Relat. Res. 424: 183-190, 2004. 

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