Features of anthropometric indicators as a phenotypic characteristic of undifferentiated connective tissue dysplasia syndrome
Authors: Dvornichenko M. V. , Gereng E. A. , Karpova M. R. , Saprina T. V. , Chernyakhovskaya D. V. , Nasibov T. F. 
Published: January 2024

Aim: To determine the association of anthropometric indicators with the severity of dysplastic phenotype in the age group of 14–18 years.

Material and Methods. An anthropometric survey of 382 volunteers was conducted according to the recommendations of Norton, Kevin on 54 indicators. Anthropometric numerical data of individual traits, as well as the calculated percentage and absolute amount of fat, muscle and bone components, and, accordingly, the coefficients of the predominance of ecto-, meso- and endomorphic components in the somatotype structure and indices were processed by methods of variational statistics to obtain averages. The analysis of indicators of physical development of adolescents (height for age, body mass index (BMI) for age) was carried out in accordance with the methodological recommendations of the World Health Organization on the Z-score system using the software “WHO AnthroPlus” v.1.0.4. for children 5–19 years old. The degree of severity of the phenotypic signs of undifferentiated connective tissue dysplasia (UCTD) was formed according to the point system, taking into account the presence of professional sports in the daily life of volunteers in the past and present.

Results. The minimum severity of the dysplastic phenotype was registered in 20% of cases, the average – in 25% of the examined, pronounced signs of UCTD were observed in 55% of boys and girls. In the structure of anthropometric data, the indicators characterizing UCTD were revealed, especially with a pronounced degree of manifestation: high growth, an increase in chest circumference, the ratio of hand to height, foot to height and arm span to height (p < 0.05). Among the surveyed with pronounced signs of UCTD, 59% were engaged in professional sports, namely high-static, medium-dynamic disciplines (gymnastics, figure skating, volleyball, light and weightlifting). In the vector analysis of the components of the catfish examined with an average degree (7–14 points) and a pronounced UCTD phenotype (more than 14 points) are characterized by large endomorphy and mesomorphy indices (p < 0.05). With an increase in the severity of the UCTD phenotype, an increase in the number and change in the quality of associations of the average score of the scale of phenotypic manifestations with anthropometric parameters was registered.

Conclusion. The wide prevalence of phenotypic signs of UCTD in a representative sample of children and adolescents in Tomsk was revealed. The relationship between the frequency of the main signs of UCTD and physical activity has been established. The constitutional features of the physique of persons with preclinical manifestations of UCTD are determined. Associations of the degree of severity of the UCTD phenotype with anthropometric parameters have been recorded. Taking into account the fact of genotypic conditioning of the physique and the hereditary nature of the dysplastic phenotype, as well as the data obtained, an anthropometric examination with the identification of the somatotype can be offered as a screening of UCTD.