Ostetricia

Sindrome di Baller-Gerold OMIM 218600

Sindrome di Baller-Gerold    OMIM 218600


E' caratterizzata dall'associazione tra craniosinostosi coronarica (brachicefalia) e difetti radiali (aplasia o ipoplasia del pollice, aplasia o ipoplasia del radio); si associano dismorfismi facciali (esoftalmo,frontal bossing, ipoplasia del naso, microstomia, palato ogivale). E' presente oligodattilia.
E' trasmessa come carattere autosomico recessivo ed è dovuta a mutazioni del gene RECQL4 che mappa in 8q24.3. Questo gene fa parte della famiglia genica delle RecQ-elicasi responsabili di malattie che predispongono ai tumori. 
La diagnosi differenziale deve essere posta con la Sindrome di Rothmund-Thomson e la Sindrome Rapaldino entrambe dovute a mutazioni del gene RECQL4, con la Sindrome di Roberts e l'anemia di Fanconi che si associano spesso ai difetti radiali ma non presentano craniosinostosi, e con la Sindrome di Saethre-Chotzen caratterizzata da craniosinostosi coronale ma non presenta difetti radiali.
Anche la sindrome da esposizione fetale all'acido valproico è caratterizzata da craniosinostosi e ipoplasia dei raggi radiali.


Bibliografia
 Anyane-Yeboa, K., Gunning, L., Bloom, A. D. Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome. Clin. Genet. 17: 161-166, 1980. 
Boudreaux, J. M., Colon, M. A., Lorusso, G. D., Parro, E. A., Pelias, M. Z. Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia. Am. J. Med. Genet. 37: 447-450, 1990.
Cohen, M. M., Jr., Toriello, H. V. Is there a Baller-Gerold syndrome? (Editorial) Am. J. Med. Genet. 61: 63-64, 1996.
Dallapiccola, B., Zelante, L., Mingarelli, R., Pellegrino, M., Bertozzi, V. Baller-Gerold syndrome: case report and clinical and radiological review. Am. J. Med. Genet. 42: 365-368, 1992.
Farrell, S. A., Paes, B. A., Lewis, M. E. S. Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. (Letter) Am. J. Med. Genet. 50: 98-99, 1994.
Feingold, M., Sklower, S. L., Willner, J. P., Desnick, R. H., Cohen, M. M. Craniosynostosis-radial aplasia: Baller-Gerold syndrome. Am. J. Dis. Child. 133: 1279-1280, 1979.
Galea, P., Tolmie, J. L. Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). J. Med. Genet. 27: 784-787, 1990.
Gripp, K. W., Stolle, C. A., Celle, L., McDonald-McGinn, D. M., Whitaker, L. A., Zackai, E. H. TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. Am. J. Med. Genet. 82: 170-176, 1999.
Huson, S. M., Rodgers, C. S., Hall, C. M., Winter, R. M. The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. J. Med. Genet. 27: 371-375, 1990.
Lewis, M. E. S., Rosenbaum, P. L., Paes, B. A. Baller-Gerold syndrome associated with congenital hydrocephalus. Am. J. Med. Genet. 40: 307-310, 1991.
Lin, A. E., McPherson, E., Nwokoro, N. A., Clemens, M., Losken, H. W., Mulvihill, J. J. Further delineation of the Baller-Gerold syndrome. Am. J. Med. Genet. 45: 519-524, 1993.
Megarbane, A., Melki, I., Souraty, N., Gerbaka, J., El Ghouzzi, V., Bonaventure, J., Mornand, A., Loiselet, J. Overlap between Baller-Gerold and Rothmund-Thomson syndrome. Clin. Dysmorph. 9: 303-305, 2000.
Pelias, M. Z., Superneau, D. W., Thurmon, T. F. A sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome. Am. J. Med. Genet. 10: 133-139, 1981.
Porteous, M. E. M., Cross, I., Burn, J. VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies? Am. J. Med. Genet. 43: 1032-1034, 1992.
Ramos Fuentes, F. J., Nicholson, L., Scott, C. I., Jr. Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature. Europ. J. Pediat. 153: 483-487, 1994.
Rossbach, H.-C., Sutcliffe, M. J., Haag, M. M., Grana, N. H., Rossi, A. R., Barbosa, J. L. Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. Am. J. Med. Genet. 61: 65-67, 1996.
Santos de Oliveira, R., Lajeunie, E., Arnaud, E., Greensmith, A., Renier, D. Baller-Gerold syndrome after fetal exposure to sodium valproate. (Letter) Am. J. Med. Genet. 134A: 113 only, 2005.
Seto, M. L., Lee, S. J., Sze, R. W., Cunningham, M. L. Another TWIST on Baller-Gerold syndrome. Am. J. Med. Genet. 104: 323-330, 2001. 22.           Toriello, H. V., Pearson, D. V. M., Sommer, A. Verification of the existence of a severe form of Fanconi pancytopenia. Proc. Greenwood Genet. Center. 11: 142, 1991.
Van Maldergem, L., Siitonen, H. A., Jalkh, N., Chouery, E., De Roy, M., Delague, V., Muenke, M., Jabs, E. W., Cai, J., Wang, L. L., Plon, S. E., Fourneau, C., Kestila, M., Gillerot, Y., Megarbane, A., Verloes, A. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J. Med. Genet. 43: 148-152, 2006.
Van Maldergem, L., Verloes, A., Lejeune, L., Gillerot, Y. The Baller-Gerold syndrome. J. Med. Genet. 29: 266-268, 1992. 


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