BJRP 011210

CONGENITAL SKELETAL MALFORMATIONS AND OSTEOCHONDRODYSPLASIAS IN BRAZIL (Cosmo-B): A COLLABORATIVE STRATEGY FOR CLINICAL MANAGEMENT AND RESEARCH

Abstract

Congenital Skeletal Malformations and Osteochondrodysplasias (CoSMO) are a neglected group of genetic diseases that contribute for the infant morbid-mortality and affecting skeletal growth and development. Although diagnosis of CoSMO is based on simple X-ray, the radiological interpretation requires expertise. The improvement on the new molecular bases of OCD has refined the differential diagnosis and helped to understand new metabolic pathways involved with skeletal development. The main goal of this project is to provide a partnership between the Brazilian and Swiss group trying to improve the clinical approach as well as the molecular diagnosis of genetic skeletal disorders. The results are expected to support the sustained development of the diagnosis, clinical management and therapy of affected children and their families in Brazil.

Prof. Andrea SUPERTI-FURGA
Prof. Denise CAVALCANTI