FREQUENCY AND CLINICAL MANIFESTATIONS OF CONNECTIVE TISSUE DYSPLASIA IN CHILDREN IN THE CITY OF SEMEY

Akhmetzhanova D. Kulabukhova N. Smagulova Z. Kazangapova A. Imangazinova S. Kazangapov R. Omarov N. Masalova Z.
January 2025 Georgian Association of Business Press

Georgian Medical News
2025 #368 Issue 11 159 - 163 pp.

Introduction: Connective tissue dysplasia (CTD) is a common condition in children and is characterized by a variety of manifestations of the musculoskeletal and cardiovascular systems. The aim of this study was to assess the frequency, age distribution, and clinical features of CTD in children aged 3–16 years. Materials and methods: A total of 375 children (3–16 years) were examined for signs of CTD. Clinical evaluation included analysis of musculoskeletal signs (joint hypermobility, scoliosis, flat feet, chest deformities, muscle hypotonia), phenotypic features (asthenic body type, auricular anomalies, arachnodactyly, dolichostenomelia), and cardiovascular disorders (mitral valve prolapse, conduction disturbances, accessory chords and trabeculae). Children were divided into age groups (3–7, 8–10, 11–16 years) and CTD severity (grades 1–3) to analyze the prevalence and characteristics of clinical manifestations. Results: Signs of CTD were identified in 75 children (20%). Most cases were mild forms (grade 1- 12.8%), moderate forms (grade 2) were less common (5.9%), and severe forms (grade 3) were extremely rare (1.3%). The most common musculoskeletal manifestations were joint hypermobility (78.7%), asthenic body type (61.3%), scoliosis (54.7%), and flat feet (42.7%). Cardiovascular disorders, including mitral valve prolapse (84%) and conduction abnormalities (65.3%), were observed in all age groups. The severity of manifestations increased with the degree of CTD, whereas age differences were more pronounced for scoliosis and cardiac changes. Conclusion: CTD in children is characterized by a persistent set of musculoskeletal and cardiovascular manifestations across various age groups, with the severity of symptoms correlating with the degree of dysplasia. Early detection and systematic clinical evaluation are essential for identifying risk groups and implementing preventive strategies for potential complications.

age distribution , cardiovascular abnormalities , children , clinical severity , Connective tissue dysplasia , musculoskeletal manifestations

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NCJSC, Semey, Kazakhstan
Pavlodar branch of the NCJSC Semey Medical University, Pavlodar, Kazakhstan
NCJSC Astana Medical University, Astana, Kazakhstan

NCJSC
Pavlodar branch of the NCJSC Semey Medical University
NCJSC Astana Medical University

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