несовершенный остеогенез, врожденные переломы, исходы родов с несовершенным остеогенезом, медико-генетическое консультирование, редкая мутация, Pediatrics, RJ1-570, Gynecology and obstetrics, RG1-991

Osteogenesis imperfecta is a rare, hereditary, genetically heterogeneous disease of connective tissue and skeleton caused by mutation of genes encoding collagen, osteoblast differentiation, bone tissue remodulator proteins and many other genes. It is clinically characterized by a combination of different features: brittle bones, skeletal deformities, stunting, blue sclerae, progressive hearing loss and abnormal dentinogenesis. The increased need for calcium during pregnancy and lactation causes a decrease in maternal bone mineral density and an increased risk of fractures. At the same time, carrying the pregnancy to term is contraindicated because of the high incidence of severe and fatal complications for both mother and fetus. This article presents a description of a family observation of four generations of women (maternal grandmother, daughter, grandchildren) with osteogenesis imperfecta, and the outcome of two pregnancies in one of them (daughter), traced directly by the authors. This demonstrates the high frequency of inheritance of osteogenesis imperfecta, the importance of timely genetic counseling and the need to prescribe pathogenetic therapy, which is intended to improve the prognosis of the course of the disease and reduce disability.