Sindrome di Larsen OMIM 150250

Sindrome di Larsen   OMIM 150250



E' una malattia genetica rara caratterizzata da lussazione congenita poliarticolare tra cui il Congenital Genu Recurvatum (bilaterale), piede torto, mano torta e caratteristica facies caratterizzata da ipertelorismo, radice del naso depressa, bozza frontale prominente, micrognazia e palatoschisi. 
E' dovuta a mutazioni o delezioni del gene FLNB sul cromosoma 3p14.3, trasmessa con carattere autosomico dominante  o con carattere recessivo

Bibliografia

Becker, R., Wegner, R.-D., Kunze, J., Runkel, S., Vogel, M., Entezami, M. Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus. Clin. Genet. 57: 148-150, 2000.
Bicknell, L. S., Farrington-Rock, C., et al.: A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J. Med. Genet. 44: 89-98, 2007.
Debeer, P. H., De Borre, L., De Smet, L., Fryns, J. P. Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome. Genet. Counsel. 14: 95-100, 2003.
Frints, S. G. M., De Smet, L., Fabry, G., Fryns, J. P. A young female with asymmetric manifestations of Larsen syndrome: another example of unilateral somatic cell-line mosaicism. Clin. Dysmorph. 9: 273-276, 2000.
Harris, R., Cullen, C. H. Autosomal dominant inheritance in Larsen's syndrome. Clin. Genet. 2: 87-90, 1971.
Houston, C. S., Reed, M. H., Desansch, J. E. L. Separating Larsen's syndrome from the 'arthrogryposis basket'. J. Canad. Assoc. Radiol. 32: 206-214, 1981.
Johnston, C. E., II, Birch, J. G., Daniels, J. L. Cervical kyphosis in patients who have Larsen syndrome. J. Bone Joint Surg. Am. 78: 538-545, 1996.
Latta, R. J., Graham, C. B., Aase, J. M., Scham, S. M., Smith, D. W. Larsen's syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies. J. Pediat. 78: 291-298, 1971.
Le Marec, B., Chapuis, M., Treguier, C., Odent, S., Bracq, H. A case of Larsen syndrome with severe cervical malformations. Genet. Counsel. 5: 179-181, 1994.
Marques, M. D. N. T. Larsen's syndrome: clinical and genetic aspects. J. Genet. Hum. 28: 83-88, 1980.
Oki, T., Terashima, Y., Murachi, S., Nogami, H. Clinical features and treatment of joint dislocations in Larsen's syndrome: report of three cases in one family. Clin. Orthop. 119: 206-210, 1976.
Stanley, C. S., Thelin, J. W., Miles, J. H. Mixed hearing loss in Larsen syndrome. Clin. Genet. 33: 395-398, 1988.


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