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2011, Number 4

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Rev Mex Pediatr 2011; 78 (4)

Osteogenesis imperfecta type IV. A case report

Hernández-Romero N, Rodríguez-Méndez J, Cruz-Reynoso L, Sánchez-García L

Language: Spanish
References: 23
Page: 152-156
PDF size: 86.48 Kb.


ABSTRACT

Osteogenesis imperfecta is the genetic bone disease with the higher incidence; characterized by bone fragility, blue sclerae, and deafness (triad of van der Hoeve), osteoporosis, fractures. It is, usually, autosomal dominant, which produces disorders in the synthesis of collagen. The diagnosis may be suspected from prenatal stage and their evolution will depend on the type of osteogenesis imperfecta diagnosed. We report a newborn case, in which was detected in the prenatal form, and after confirmed the diagnosis of osteogenesis imperfecta type IV.


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