Pathogenic pattern of somatic disorders in children with congenital cleft lip and palate in associated connective tissue dysplasia

Abstract

E.V. Neudakhin1, A.G. Prityko1, A.Yu. Kugushev2, T.I. Meshcheryakova1, A.B. Suleymanov1 1Research Practical Center for Children’s Specialized Medical Care, Moscow, Russian Federation 2Pirogov Russian National Research Medical University, Moscow, Russian Federation In children with cleft lip and palate (CLP), various organ and organ system abnormalities occur under the effect of endogenous (hereditary) and/or exogenous (resulting in impaired embryogenesis) factors. The community of CLP and multiorgan disorders is accounted for by connective tissue dysplasia (CTD). According to a theory of mesodermal migration, the development of connective tissue is associated with impaired formation and development of mesodermal elements during embryogenesis. Mitochondrial dysfunction accompanied by significant energy metabolism abnormalities with signs of oxidative stress, hypoxia, and acidosis has a crucial role in CTD. Matrix metalloproteinases are actively involved in developing CTD and CLP. Genotyping of gene polymorphism involved in lip and palate morphogenesis is required to predict the risk of congenital CLP in compromised families. This paper addresses data helpful in developing preventive and treatment approaches, predicting and managing child ren with CLP from an individual and familial viewpoint. Keywords: children, cleft lip and palate, connective tissue dysplasia, mitochondrial dysfunction, matrix metalloproteinases, energetic therapy, L-carnitine. For citation: Neudakhin E.V., Prityko A.G., Kugushev A.Yu. et al. Pathogenic pattern of somatic disorders in children with congenital cleft lip and palate in associated connective tissue dysplasia. Russian Journal of Woman and Child Health. 2021;4(4):362–369 (in Russ.). DOI: 10.32364/2618-8430-2021-4-4-362-369.