Background:

osteogenesis imperfecta is mainly an autosomal dominant hereditary disease characterized by a decrease in bone mass and susceptibility to fractures. It is a rare disease with an incidence of 1 in 15,000 - 20,000 births.

Objective:

to present the case of a newborn with a diagnosis of osteogenesis imperfecta type II, the most serious and lethal form.

Case report:

we describe the management and evolution of a newborn with a prenatal diagnosis of Osteogenesis Imperfecta. At birth, she presented clinical and radiologic manifestations that suggested OI, confirming a mutation in heterozygosis of the COL1A2 gene, a pathogenic variant associated with severe forms. The necropsy supports the diagnosis.

Conclusions:

osteogenesis imperfecta type II is an infrequent genetic disorder, with high mortality in the early neonatal period. The treatment for this newborn was based on ventilatory support, comfort measures and sedoanalgesia. Despite the low probability of recurrence in case of future pregnancies, we emphasized the importance of genetic counseling for this family.

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