Publication of the article:
«Bulletin of problems biology and medicine», 2021 Issue 1, 159,
ONTOLOGY OF CONGENITAL DEFECTS OF THE SHIN BONES
About the author:
Komar T. V., Khmara T. V., Popovych A. I., Kavun M. P., Petriuk A. Ye.
Heading:
LITERATURE REVIEWS
Type of article:
Scentific article
Annotation:
Abstract. According to the WHO, congenital anomalies occur in 5.5% of newborns, and from 1.7 to 12.5% of these children have malformations of the lower extremities. Congenital malformations (CM) of the lower extremities are disorders of the formation of their skeleton in the prenatal period of human ontogenesis and are manifested by various pathological changes in the corresponding bones. CM of the lower extremities can be divided into typical (independent nosological forms) and atypical (combined with other anomalies or diseases). In 31% of CM, the shin bones are unilateral. It is also noted that in children with congenital defects of the lower extremities, the longitudinal deformation predominates over the transverse. Because the incidence of lower extremity skeletal CM is about 5:1000 pregnancies, geneticists continue to determine the causes of shin bone CM. In most cases, developmental abnormalities are caused by mutations in a single gene, numerical or structural chromosomal aberrations. The influence of embryotoxic factors is not excluded either. A detailed history of pregnancy, including medication, exposure to viruses, drug use, trauma, diabetes, and chorionic villus sampling in the first weeks of pregnancy may help identify etiologic factors. The fetal face, cardiovascular, nervous, genitourinary, and digestive systems should also be evaluated to determine the presence or absence of concomitant abnormalities. Once a presumptive diagnosis is made, an early comprehensive assessment by specialists, including obstetricians, gynecologists, geneticists, surgeons, and orthopedists, is needed to determine further pregnancy, delivery, surgical correction, and rehabilitation tactics. The causal relationship between the action of certain harmful factors and the occurrence of CM of the tibia depends on the time of exposure, most often disorders occur from 4 to 8 weeks of gestation, when there are a bookmark and the formation of the skeleton of the lower extremities. Disturbances in the normal development of the tibia also contribute to intrauterine fractures of the tibia and fibula, their mechanical compression, or incorrect position. Based on the analysis of literature sources, an attempt is made to summarize the existing information on congenital malformations of the tibia and proposed their classification, as well as interpretation according to the alphabet. The most common hereditary syndromes with malformations of the tibia and fibula are briefly described.
Tags:
tibia, fibula, congenital malformations, anatomy, human.
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Publication of the article:
«Bulletin of problems biology and medicine» Issue 1 (159), 2021 year, 273-278 pages, index UDK 611.718.5/.6.012.2
DOI:
10.29254/2077-4214-2021-1-159-273-278