ISSN 2415-3060 (print), ISSN 2522-4972 (online)
  • 7 of 67
УЖМБС 2020, 5(4): 61–70
Medicine. Reviews

Ontology of Congenital Malformations of the Humerus and Forearm Bones

Khmara T. V., Nikorych D. M., Stabryn M. B., Ryznychuk M. O., Stelmakh G. Ya., Leka M. Yu.

Congenital malformations are diagnosed in 1-3% of new-borns, and about 10% of these children have congenital abnormalities of the upper extremities. The incidence of birth anomalies has not significantly changed in the last decade. Most of them develop spontaneously or as a result of existing genetic pathology, and only some of them develop under the influence of teratogenic factors. The purpose of the study was to summarize the data from the literature on the birth defects of the humerus, elbow and radial bones, and propose their classification. Based on the analysis of sources of scientific literature, we made an attempt to summarize the existing information on the shoulder and forearm bones and propose their classification and interpretation according to the alphabet. Originally the anomalies of development of extremities can be divided into embriopathies which are based on defection of the organ’s organization and pathology of embryo in a period from 16-20th twenty-four hours after an impregnation to the end of 8th week underdevelopment and fetopathy which is based on pathology of the fetation, that arises up as a result of influence of harmful factors from 9th week of underdevelopment and to the moment of birth. Impaired mesenchyme development in the 4th-8th weeks of the prenatal period of ontogenesis results in such defects of the development of the upper extremities as underdevelopment, fusion of their proximal or distal edges, absence or underdevelopment of anatomic structures. The 4th-5th weeks of intrauterine development are the most vulnerable to the influence of teratogens, which cause congenital malformations of the extremities. Congenital abnormalities of the skeletal bones of the humerus and forearm occur as a result of impaired processes of chemotaxis, proliferation, differentiated and programmed cell death in the early stages of embryogenesis. All malformations of the extremities can be divided into five groups, namely: congenital amputations (amelia and congenital amputation stump of the distal region of the extremity in case its proximal region is normally developed); underdevelopment of the extremity (ectromelia, peromelia, phocomelia); amniotic constrictions; brachimelia and congenital false joints. Congenital malformations of the extremities can have local character or accompanied by congenital abnormalities of other systems of the organism. Conclusion. Based on the analysis of scientific resources, the authors generalized the existing data about the congenital malformations of the skeleton of the shoulder and forearm and suggested their classification and interpretation according to the alphabet. The most common hereditary syndromes involving developmental malformations of the humerus and forearm bones were briefly characterized.

Keywords: humerus, ulna, radial bone, malformation, upper extremity, human

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