Ostetricia

Sindrome di Sphrintzen-Goldberg OMIM 182212

Sindrome di Sphrintzen-Goldberg    OMIM 182212


redatto da P.Parisella

La Sindrome di Shprintzen-Goldberg è estremamente rara ed è caratterizzata da craniosinostosi, caratteristica facies dismorfica (ipertelorismo, micrognazia, orecchie ad impianto basso e ruotate posteriormente, palato ogivale) ed anomalie cardiovascolari.
E' sporadica ma in alcuni pazienti sono state identificate mutazioni del gene della fibrillina-1.


Bibliografia

 Ades, L. C., Morris, L. L., Power, R. G., Wilson, M., Haan, E. A., Bateman, J. F., Milewicz, D. M., Sillence, D. O. Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. Am. J. Med. Genet. 57: 565-572, 1995.
Ades, L. C., Sullivan, K., Biggin, A., Haan, E. A., Brett, M., Holman, K. J., Dixon, J., Robertson, S., Holmes, A. D., Rogers, J., Bennetts, B. FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. Am. J. Med. Genet. 140A: 1047-1058, 2006.
Carmignac, V., Thevenon, J., Ades, L., Callewaert, B., Julia, S., Thauvin-Robinet, C., Gueneau, L., Courcet, J.-B., Lopez, E., Holman, K., Renard, M., Plauchu, H., and 26 others. In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am. J. Hum. Genet. 91: 950-957, 2012.
Doyle, A. J., Doyle, J. J., Bessling, S. L., Maragh, S., Lindsay, M. E., Schepers, D., Gillis, E., Mortier, G., Homfray, T., Sauls, K., Norris, R. A., Huso, N. D., and 22 others. Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nature Genet. 44: 1249-1254, 2012.
Greally, M. T., Carey, J. C., Milewicz, D. M., Hudgins, L., Goldberg, R. B., Shprintzen, R. J., Cousineau, A. J., Smith, W. L., Jr., Judisch, G. F., Hanson, J. W. Shprintzen-Goldberg syndrome: a clinical analysis. Am. J. Med. Genet. 76: 202-212, 1998.
Hassed, S., Shewmake, K., Teo, C., Curtis, M., Cunniff, C. Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. (Letter) Am. J. Med. Genet. 70: 450-453, 1997.
Kosaki, K., Takahashi, D., Udaka, T., Kosaki, R., Matsumoto, M., Ibe, S., Isobe, T., Tanaka, Y., Takahashi, T. Molecular pathology of Shprintzen-Goldberg syndrome. (Letter) Am. J. Med. Genet. 140A: 104-108, 2006.
Loeys, B. L., Chen, J., Neptune, E. R., Judge, D. P., Podowski, M., Holm, T., Meyers, J., Leitch, C. C., Katsanis, N., Sharifi, N., Xu, F. L., Myers, L. A., and 12 others. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nature Genet. 37: 275-281, 2005.
Robinson, P. N., Neumann, L. M., Demuth, S., Enders, H., Jung, U., Konig, R., Mitulla, B., Muller, D., Muschke, P., Pfeiffer, L., Prager, B., Somer, M., Tinschert, S. Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. Am. J. Med. Genet. 135A: 251-262, 2005.
Saal, H. M., Bulas, D. I., Allen, J. F., Vezina, L. G., Walton, D., Rosenbaum, K. N. Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. Am. J. Med. Genet. 57: 573-578, 1995.
Shprintzen, R. J., Goldberg, R. B. Dysmorphic facies, omphalocele, laryngeal and pharyngeal hypoplasia, spinal anomalies, and learning disabilities in a new dominant malformation syndrome. Birth Defects Orig. Art. Ser. XV(5B): 347-353, 1979.
Shprintzen, R. J., Goldberg, R. B. A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. J. Craniofac. Genet. Dev. Biol. 2: 65-74, 1982.
Sood, S., Eldadah, Z. A., Krause, W. L., McIntosh, I., Dietz, H. C. Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nature Genet. 12: 209-211, 1996. 






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