Marfan syndrome (MFS) is a common connective tissue disorder affecting one in 3300 people worldwide, and is caused by unique mutations in the 65 exon gene for fibrillin-1—an essential microfibril component of ligaments, tendons, and muscle. A recently discovered feature in the Marfan mouse model is increased concentrations of transforming growth factor β, resulting in overgrowth. 70% of patients with MFS have scoliosis of some degree. Can lessons be learned from MFS aetiology and treatment that apply to idiopathic adolescent scoliosis? We aimed to establish whether there is a relationship between the type and location of mutation, and the presence and degree of severity of scoliosis, in patients with MFS. Of 181 consecutive patients with MFS with known causative fibrillin-1 mutations, 93 were male (51%) and 88 female (49%). 28 (15%; ten males, 18 females) of the total group had moderate to severe scoliosis, including two females and two males who had corrective surgery. Of the 16 patients with severe scoliosis (three males, 13 females), Height A rapid adolescent growth spurt to excessive height is a documented clinical feature in MFS. The age of clinical diagnosis as an indication of severity was on average 11·3 years (range 2 days to 36 years), and ten patients were diagnosed before the age of 12 years.Introduction
Methods
