EVOLVING PHENOTYPE OF MARFANS-SYNDROME

Aim-To examine evolution of the physical characteristics of Marfan's s yndrome throughout childhood. Methods-40 children were ascertained dur ing the development of a regional register for Marfan's syndrome. Evol ution of the clinical characteristics was determined by repeat evaluat ion of 10 patients with sporadic Marfan's syndrome and 30 with a famil y history of the condition. DNA marker studies were used to facilitate diagnosis in those with the familial condition. Results-Musculoskelet al features predominated and evolved throughout childhood. Gene tracki ng enabled early diagnosis in children with familial Marfan's syndrome . Conclusions-These observations may aid the clinical diagnosis of Mar fan's syndrome in childhood, especially in those with the sporadic con dition. Gene tracking has a role in the early diagnosis of familial Ma rfan's syndrome, allowing appropriate follow up and preventive care.