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Atelosteogenesi Tipo II OMIM 256050

Atelosteogenesi Tipo II    OMIM 256050

Segni principali:
Micromelia 
ipoplasia toracica 
palatoschisi 
piede torto 
scoliosi 
pollici e alluci addotti 


Note diagnostiche:

E' dovuta a mutazione del gene DTDST (SLC26A2, DTD, DTDST, D5S1708, EDM4), trasportatore di solfato, lo stesso gene causa della displasia diastrofica.

Si manifesta con severa micromelia, ipoplasia toracica, piede torto, palatoschisi, micrognazia, pollici ed alluci addotti, scoliosi.

Bibliografia

Hastbacka, J., Superti-Furga, A., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., Lander, E. S. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am. J. Hum. Genet. 58: 255-262, 1996. 
Newbury-Ecob R: Atelosteogenesis type 2. J Med Genet 35:49-53, 1998 Nores, J. A., Rotmensch, S., Romero, R., Avila, C., Inati, M., Hobbins, J. C. Atelosteogenesis type II: sonographic and radiological correlation. Prenatal Diag. 12: 741-753, 1992. 
Rossi, A., van der Harten, H. J., Beemer, F. A., Kleijer, W. J., Gitzelmann, R., Steinmann, B., Superti-Furga, A. Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. Hum. Genet. 98: 657-661, 1996. 
Salonen, R. Neonatal osseous dysplasia I: second report. Prog. Clin. Biol. Res. 104: 171-172, 1982. Sillence, D., Kozlowski, K., Rogers, J., Sprague, P., Cullity, G., Osborn, R. Atelosteogenesis: evidence for heterogeneity. Pediat. Radiol. 17: 112-118, 1987. 
Superti-Furga, A., Rossi, A., Steinmann, B., Gitzelmann, R. A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. Am. J. Med. Genet. 63: 144-147, 1996. 
Ueno K, Tanaka M, Myakoshi K et al: Prenatal diagnosis of atelosteogenesis type II at 21 weeksÂ’ gestation. Prenatal Diagn 22:1071-1075, 2002


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