Stampa

Sindrome di Richieri Costa-Pereira OMIM 268305

Sindrome di Richieri Costa-Pereira  OMIM 268305



La sindrome di Richieri Costa-Pereira รจ una rara malattia (prevalenza 1:1.000.000) ad insorgenza nel periodo neonatale o nella prima infanzia. 
E' caratterizzata da bassa statura per accorciamento mesomelico degli arti (ipoplasia di tibia e fibula, ipoplasia o assenza di radio o ulna), sequenza di Robin (micrognazia, glossoptosi, palatoschisi), schisi mandibolare con assenza degli incisivi inferiori, piedi torti (piedi equini), anomalie delle mani (oligodattilia interessante il raggio ulnare), microstomia, impianto basso delle orecchie, palato ogivale.

E' trasmessa con carattere autosomico recessivo legata a mutazioni del gene EIF4A3 (eukariotic translation initiation factor).


Bibliografia
Favaro, F. P., Alvizi, L., Zechi-Ceide, R. M., et al. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. Am. J. Hum. Genet. 94: 120-128, 2014. 
Favaro, F. P., Zechi-Ceide, R. M., Alvarez, et al. Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type: an overview of the Brazilian cases. Am. J. Med. Genet. 155A: 322-331, 2011. 
Golbert, M. B., Dewes, L. O., Philipsen, et al. New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis. Clin. Dysmorph. 16: 85-88, 2007. 
Guion-Almeida, M. L, Richieri-Costa, A. Autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial limb anomalies, and clubfeet: report of a patient with preaxial polydactyly of the halluces. Braz. J. Dysmorph. Speech Hear. Disord. 1: 27-30, 1998.
Raskin, S., Souza, M., Medeiros, M. C., et al.Richieri-Costa and Pereira syndrome: severe phenotype. Am. J. Med. Genet. 161A: 1999-2003, 2013. 
Richieri-Costa, A., Pereira, S. C. S. Autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet in male patients. Am. J. Med. Genet. 47: 707-709, 1993. 
Richieri-Costa, A., Pereira, S. C. S. Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome. Am. J. Med. Genet. 42: 681-687, 1992. 
Souza, J., dal Vesco, K., Tonocchi, R., Closs-Ono, M. C., Passos-Bueno, M. R., da Silva-Freitas, R. The Richieri-Costa and Pereira syndrome: report of two Brazilian siblings and review of literature. Am. J. Med. Genet. 155A: 1173-1177, 2011. 
Tabith, A., Jr., Bento-Goncalves, C. G. A. Laryngeal malformations in the Richieri-Costa and Pereira form of acrofacial dysostosis. Am. J. Med. Genet. 66: 399-402, 1996. [PubMed: 8989456, related citations]
Tabith, A., Jr., Bento-Goncalves, C. G. A. Laryngeal malformation in the Richieri-Costa-Pereira acrofacial dysostosis: description of two new patients. Am. J. Med. Genet. 122A: 133-138, 2003.
Walter-Nicolet, E., Coeslier, A., Joriot, S., Kacet, N., Moerman, A., Manouvrier-Hanu, S. The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant. Am. J. Med. Genet. 87: 430-433, 1999. 

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