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https://doi.org/10.14300/mnnc.2016.11051

Family manifestations of undifferentiated connective tissue dysplasia syndrome and associated somatic pathology

[CTD in pediatrics]
Angelina Kalmykova; Natalia Fedko; Natalya Zarytovskaya; Victoriya Kalmykova;

A total of 61 families were surveyed: probands and relatives of I, II, III degrees of relationship. Selection of families was carried out by a proband (children at the age of 3–16) with external signs of connective tissue dysplasia. In total 369 persons are surveyed: 61 probands, 123 persons – relatives of I degree of relationship, 164 persons – II degree, 21 persons – III degree.
Clinical and genealogical analysis of the structure of somatic pathology in the families of these children has revealed a close correlation connection of chronic pathology in the proband and relatives. The elevated level of autoantibodies to collagen in children and their parents, as a UCTDS marker, probably underlies the hereditary predisposition to the formation of connective tissue disorders in the next generation. The received results are important for the development of individual programs of prevention of possible complications in children with UCTDS.

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Keywords: children, undifferentiated connective tissue dysplasia syndrome, somatic pathology, autoantibodies to collagen