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FAMILY SURVEILLANCE OF OSTEOGENESIS IMPERFECTA: PREGNANCY OUTCOMES, TACTICAL APPROACHES, AND PROSPECTS FOR SOLVING THE PROBLEM

FAMILY SURVEILLANCE OF OSTEOGENESIS IMPERFECTA: PREGNANCY OUTCOMES, TACTICAL APPROACHES, AND PROSPECTS FOR SOLVING THE PROBLEM

Abstract

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.

Keywords

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

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
gold