1. Skeletal evolution in Marfan syndrome: growth curves from a French national cohort.
- Author
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Benoist G, Tubach F, Roy C, Rioux S, Michelon-Jouneaux M, Chevallier B, Jondeau G, and Stheneur C
- Subjects
- Adolescent, Body Size, Bone and Bones anatomy & histology, Child, Child, Preschool, Female, Fibrillin-1 genetics, France, Humans, Infant, Infant, Newborn, Male, Mutation, Nomograms, ROC Curve, Retrospective Studies, Marfan Syndrome epidemiology, Marfan Syndrome physiopathology
- Abstract
BackgroundTo describe the growth patterns of children affected by Marfan syndrome (MFS) compared with those of unaffected children and to create growth charts.MethodsAn observational study of children referred to the French National MFS Reference Centre. A total of 259 children carrying an FBN1 gene mutation and fulfilling Ghent 1 criteria (MFS group) and 474 mutation-negative sibling controls (non-MFS group) were evaluated. Both groups were compared with French-accepted reference nomograms (Reference group).ResultsBoys and girls from the MFS group were significantly taller than those in the non-MFS group and in the reference group at all ages (P<0.0001). But, MFS children's overgrowth reduced with age. At 17 years of age, the mean height (MFS vs. non-MFS) was 191.2±8.4 cm (+2.9 SD) vs. 182.9±8.1 (+1.6 SD) for boys and 178.3±7.6 cm (+2.7 SD) vs. 169.5±6.8 (+1.2 SD) for girls, respectively. By contrast, the mean BMI of children in the MFS group was similar to those in the non-MFS group and inferior to the values of French general population, evolving around -1 SD.ConclusionGrowth patterns differ in patients with an FBN1 mutation. Knowing the growth parameters should allow physicians to better counsel patients and detect the associated diseases. The provided curves could also help to predict the final height.
- Published
- 2018
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