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S
coliosis can be either idiopathic or secondary to congenital vertebral abnormalities. Idiopathic typically occurs in children and
adolescents who are otherwise healthy. Congenital is due to anomalous development of the vertebrae (failure of formation
and/or segmentation). Incidence is estimated in 1/1,000 to 1/2,000 but the true incidence remains unknown. Etiology is
unknown. Age and range mean 6 years (range few days of life to 25 years). Is more common in girls than in boys, occurring in
the ratio of 2.5 - 1. Genes of the Notch signaling pathways have been identified as responsible for some cases of scoliosis, they
are involved in various biologic processes, including somatogenesis, and neurogenesis. Our primary objective will be to identify
genetic component in congenital scoliosis using family linkage (consanguineous families) analysis and association studies that
will help in the identification of the genetic component or disease susceptibility to a specific chromosomal region that may help in
unraveling of the underlying defect. Understanding and defining the natural history of specific mutation(s) and the developmental
(molecular) mechanisms in vertebral patterning, may aid in the identification of protective factors for normal spinal development
and toward the prevention of disfiguring congenital scoliosis. No study of this nature has ever been conducted in the Puerto Rican
population and very limited data of incidence and prevalence ever been reported.
Biography
Juan E. Baez-Segarra is a doctoral candidate in Public Health at the Ponce School of Medicine and Health Sciences, Ponce, Puerto Rico. He has
a DVM degree from the Pedro Enriquez Ure�a University in Santo Domingo, Dominican Republican. He has been practicing for 20 years as a small
animals veterinarian. Dr. Baez is also an advocate for the local Animal Shelter. He possess a master?s degree in Public Health from Ponce School
of Medicine.
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