The role of musculoskeletal aspects in the early diagnosis of Marfan Syndrome in children

BACKGROUND: Diagnosis of Marfan Syndrome (MS) in children is difficult because the Ghent Criteria commonly used in adults are unreliable in pediatric populations. The aim of our study was to investigate the role of musculoskeletal aspects in the early diagnosis of MS by analyzing a pediatric cohort of patients. METHODS: We investigated 40 children with MS admitted at the referral center for diagnosis of rare diseases of our hospital. For this study, all children underwent evaluation by an orthopedic, a cardiac surgeon, an ophthalmologist, a geneticist and a pediatrician. A blood test was also performed for genetic assessment to evaluate the presence of FBN1 pathogenic variant. RESULTS: Skeletal abnormalities were observed in all children. The wrist and thumb signs were present in isolated form or in association in 72.5% of cases, pectus carinatum or excavatum, and chest asymmetry in 20%, foot deformities in 27.5%, reduced upper to lower segment ratio in 5%, scoliosis or kyphosis in 7.5% of patients. CONCLUSIONS: Diagnosis of MS remains difficult in the pediatric population because the majority of clinical features are “age-dependent.” Therefore, the Ghent Criteria might be not reliable, especially in younger children. However, the typical musculoskeletal aspects may represent the first alarm bell to guide children towards an early diagnosis.