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Evolving phenotype of Marfan’s syndrome

AIM To examine evolution of the physical characteristics of Marfan’s syndrome throughout childhood. METHODS 40 children were ascertained during the development of a regional register for Marfan’s syndrome. Evolution of the clinical characteristics was determined by repeat evaluation of 10 patients with sporadic Marfan’s syndrome and 30 with a family history of the condition. DNA marker studies were used to facilitate diagnosis in those with the familial condition. RESULTS Musculoskeletal features predominated and evolved throughout childhood. Gene tracking enabled early diagnosis in children with familial Marfan’s syndrome. CONCLUSIONS These observations may aid the clinical diagnosis of Marfan’s syndrome in childhood, especially in those with the sporadic condition. Gene tracking has a role in the early diagnosis of familial Marfan’s syndrome, allowing appropriate follow up and preventive care.