Abstract

HERNANDEZ GARCIA, Iván et al. Osteogenesis imperfecta: germinal mosaicism or genetic heterogeneity evidence. Presentation of a family and a literature review. Rev Cubana Pediatr [online]. 2007, vol.79, n.3, pp. 0-0. ISSN 1561-3119.

Osteogenesis imperfecta is one of the bone dysplasias caused by altered density and bone model defects. Type I is the most common form of disease and is characterized by an autosomal dominant inheritance pattern. Sometimes, this disease occurs as a result of a new mutation. It has been also demonstrated that it can be caused by germ mosaicisms. This paper documented for the first time in Cuba the case of a family with three (3) individuals of both sexes affected by type-1 osteogenesis imperfecta but their parents were not. The etiological possibilities of germ mosaicism and the possibilities of an inheritance pattern different from the dominant one were discussed, which would give new genetic heterogeneity evidence.

Keywords : osteogenesis imperfecta; germ mosaicism; genetic heterogeneity.

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