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Archivos de Pediatría del Uruguay

Print version ISSN 0004-0584On-line version ISSN 1688-1249

Abstract

ALTAMIRANO, Lovelia; DE MARIA, Manuela  and  POSE, Guillermo. Case report of osteogenesis imperfecta type II. Arch. Pediatr. Urug. [online]. 2019, vol.90, n.4, pp.215-220.  Epub Aug 01, 2019. ISSN 0004-0584.  http://dx.doi.org/10.31134/ap.90.4.5.

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.

Keywords : Osteogenesis imperfecta; Connective tissue; Inborn genetic diseases.

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