Ostetricia

Sindrome di McKusick-Kaufman

Sindrome di McKusick-Kaufman   OMIM 236700


La sindrome di McKusick-Kaufman è caratterizzata nelle femmine da idrometrocolpo e polidattilia postassiale; meno 

frequenti le cardiopatie congenite. L'idrometrocolpo, conseguente a imene imperforato o atresia della vagina, è dovuto ad 

accumulo di secrezioni in vagina e in utero con formazione di una massa mediana, fissa che può anche provocare 

idronefrosi. 

Nei maschi la sindrome si manifesta con ipospadia, rafe scrotale prominente e polidattilia postassiale; possono associarsi 

occasionalmente atresia esofagea con fistola tracheo-esofagea distale, difetti vertebrali e idrope fetale. 

La trasmissione è autosomica recessiva legata a mutazioni del gene MKKS sul cromosoma 20p12. Le mutazioni del gene 

MKKS sono responsabili anche della sindrome di Bardet-Biedl (dalla quale deve essere differenziata) caratterizzata da 

anomalie renali, polidattilia, retinite pigmentosa, ipogenitalismo.  

La diagnosi prenatale della sindrome di McKusick-Kaufman è possibile, nelle femmine  attraverso il riscontro ecografico 

di massa addominale e polidattilia, nei maschi di ipospadia e polidattilia. 



Bibliografia


Davenport, M., Taitz, L. S., Dickson, J. A. S. The Kaufman-McKusick syndrome: another association. J. Pediat. Surg. 24: 1192-1194, 1989.
David, A., Bitoun, P., Lacombe, D., Lambert, J.-C., Nivelon, A., Vigneron, J., Verloes, A. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. J. Med. Genet. 36: 599-603, 1999.
Farrell, S. A., Davidson, R. G., DeMaria, J. E., Grant, L., Toi, A. Abdominal distension in Kaufman-McKusick syndrome. Am. J. Med. Genet. 25: 205-210, 1986.
Fath, M. A., Mullins, R. F., Searby, C., Nishimura, D. Y., Wei, J., Rahmouni, K., Davis, R. E., Tayeh, M. K., Andrews, M., Yang, B., Sigmund, C. D., Stone, E. M., Sheffield, V. C. Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum. Molec. Genet. 14: 1109-1118, 2005.
Goecke, T., Dopfer, R., Huenges, R., Conzelmann, W., Feller, A., Majewski, F. Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: a rare autosomal recessive syndrome. Europ. J. Pediat. 136: 297-305, 1981.
Haspeslagh, M., Fryns, J. P., Van den Berghe, K., Goddeeris, P., Lauweryns, J., Van den Berghe, H. Hydrometrocolpos--polydactyly syndrome in a macerated female foetus. Europ. J. Pediat. 136: 307-309, 1981.
Knowles, J. C., Brandt, I. K., Bull, M. J. Kaufman syndrome (hydrometrocolpos, polydactyly, and congenital heart disease) with pituitary dysplasia, choanal atresia, and vertebral anomalies. Am. J. Med. Genet. 8: 389-393, 1981.
Lurie, I. W. Pallister-Hall and McKusick-Kaufman syndromes. (Letter) J. Med. Genet. 32: 668-672, 1995.
Lurie, I. W., Wulfsberg, E. A. The McKusick-Kaufmann syndrome: phenotypic variation observed in familial cases as a clue for the evaluation of sporadic cases. Genet. Counsel. 5: 275-281, 1994. [
MacLachlan, A. K., Houston, C. S., Chudley, A. E. Hydrometrocolpos in Kaufman syndrome. J. Canad. Assoc. Radiol. 31: 193-195, 1980.
McKusick, V. A., Bauer, R. L., Koop, C. E., Scott, R. B. Hydrometrocolpos as a simply inherited malformation. JAMA 189: 813-816, 1964.
McKusick, V. A., Weilbaecher, R. G., Gragg, G. W. Recessive inheritance of a congenital malformation syndrome. JAMA 204: 113-118, 1968.
Pare, C., Elhilali, M. Hydrometrocolpos, polydactylie, hemihypertrophie. Un. Med. Canada 101: 1311-1315, 1972.
Pinsky, L. Origin of the 'associated' anomalies in Kaufman-McKusick syndrome. (Letter) Am. J. Med. Genet. 14: 791-792, 1983.
Pul, N., Pul, M., Gedik, Y. McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula: a case report and review of the literature. Am. J. Med. Genet. 49: 341-343, 1994.
Robinow, M., Shaw, A. The McKusick-Kaufman syndrome: recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease. J. Pediat. 94: 776-778, 1979.
Rosen, R. S., Bocian, M. E. Non-immune hydrops fetalis in the McKusick-Kaufman syndrome. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A61 only, 1989.
Schaap, C., de Die-Smulders, C. E. M., Kuijten, R. H., Fryns, J. P. McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period. Europ. J. Pediat. 151: 583-585, 1992.
Schaefer, E., Durand, M., Stoetzel, C., Doray, B., Viville, B., Helle, S., Danse, J.-M., Hamel, C., Bitoun, P., Goldenberg, A., Finck, S., Faivre, L., and 9 others. Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. Europ. J. Med. Genet. 54: 157-160, 2011.
Slavotinek, A. M., Biesecker, L. G. Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: a literature review. Am. J. Med. Genet. 95: 208-215, 2000.
Slavotinek, A. M., Dutra, A., Kpodzo, D., Pak, E., Nakane, T., Turner, J., Whiteford, M., Biesecker, L. G., Stratton, P. A female with complete lack of mullerian fusion, postaxial polydactyly, and tetralogy of Fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? Am. J. Med. Genet. 129A: 69-72, 2004.
Stone, D., Schaffer, A., Agarwala, R., Francomano, C. A., Biesecker, L. G. Genetic and physical mapping of the McKusick-Kaufmann (sic) (hydrometrocolpos-polydactyly) syndrome. (Abstract) Am. J. Hum. Genet. 61 (suppl.): A13 only, 1997.
Stone, D. L., Agarwala, R., Schaffer, A. A., Weber, J. L., Vaske, D., Oda, T., Chandrasekharappa, S. C., Francomano, C. A., Biesecker, L. G. Genetic and physical mapping of the McKusick-Kaufman syndrome. Hum. Molec. Genet. 7: 475-481, 1998.
Stone, D. L., Slavotinek, A., Bouffard, G. G., Banerjee-Basu, S., Baxevanis, A. D., Barr, M., Biesecker, L. G. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nature Genet. 25: 79-82, 2000.
Unsinn, K. M., Neu, N., Krejci, A., Posch, A., Menardi, G., Gassner, I. Pallister-Hall syndrome and McKusick-Kaufmann (sic) syndrome: one entity? J. Med. Genet. 32: 125-128, 1995.
Vince, J. D., Martin, N. J. McKusick-Kaufman syndrome: report of an instructive family. Am. J. Med. Genet. 32: 174-177, 1989. 




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