Analysis of the physical growth and markers of connective tissue dysplasia in patients with Perthes disease

Abstract

Introduction. The pathogenesis of Perthes disease is not fully understood and requires a greater understanding of the physical development, external and internal markers of connective tissue dysplasia. Objective. To analyze the deviations in physical development and connective tissue dysplasia in children with Perthes disease to determine its phenotypes. Materials and methods. We examined 52 patients and 36 children (control group) aged of 4–17 years. We estimated and compared their physical and proportional growth by using centile charts and Vervec’s index and defined external and internal manifestations of connective tissue dysplasia in major organs, systems, and topographic regions. Complete genealogical histories were taken by with examining the genealogies of 52 probands, including clinical examination of 136 first and second degree relatives. Results. Deviations in physical growth were observed in 33 patients (63.5%). The body height of 27 (51.9%) patients aged 4–17 years ranged from 1–2 lines (3–10%) and was significantly lower than that of the control group within 5 lines (p < 0.5). Six (11.6%) children had body lengths higher than the average 7th line (75–90%). Vervec’s index in 34 (65.4%) children ranged from 1.25–0.85 and represented mesomorphy, moderate brachy, or dolichomorphia. The primary pathology of external organs and systems was skeletal anomalies in 36 (69.2%) children, followed by dermal in 23 (44.2%) and organs of vision in 9 (17.3%). Among visceral disorders, the primary pathology was cardiovascular diseases in 17 (32,7%) children followed by surgical and urological pathologies in 7 (13.5%) and digestive system disorders in 5 (9.6%). Disease inheritance was sporadical in 48 (92.3%) children. Conclusion. The Perthes disease phenotype was related to the undifferentiated form of collagenopathies.