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

Area of Science:

• Pediatric Medicine
• Genetics
• Cardiology

Background:

• Connective tissue dysplasia (CTD) is a prevalent childhood condition with diverse musculoskeletal and cardiovascular symptoms.
• Understanding its frequency and clinical spectrum in children is crucial for management.

Purpose of the Study:

• To determine the prevalence, age distribution, and clinical features of CTD in children aged 3-16 years.
• To analyze the relationship between CTD severity, age, and specific manifestations.

Main Methods:

• A cross-sectional study involving 375 children aged 3-16 years.
• Clinical evaluation of musculoskeletal signs, phenotypic features, and cardiovascular disorders.
• Stratification by age groups and CTD severity grades (1-3).

Main Results:

• CTD was identified in 20% of children, with most cases being mild (grade 1).
• Common manifestations included joint hypermobility, asthenic body type, scoliosis, flat feet, mitral valve prolapse, and conduction abnormalities.
• Symptom severity correlated with CTD grade; scoliosis and cardiac changes showed age-related differences.

Conclusions:

• CTD presents with consistent musculoskeletal and cardiovascular features in children across age groups.
• Symptom severity is linked to the degree of dysplasia.
• Early detection and systematic evaluation are vital for risk identification and prevention of complications.