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- W4285668916 abstract "Abstract Background Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies as associated features. Due to their rarity, the characterization of the musculo-skeletal phenotype in both CS and CFCS has been poorly characterized compared to other RASopathies. Patients and methods Herein we assessed a thorough evaluation of orthopedic findings in CS and CFCS in a monocentric cohort of patients, including information about their functional status. A total of 34 patients with molecularly confirmed diagnosis of CS (N=17) and CFCS (N=17) were recruited. Data on orthopedic findings were collected by filling in a comprehensive checklist of 100 items assessment. Functional and disability evaluations were performed by assessing the 6-minute walking test (6MWT) in patients with independent walking and Pediatric Outcomes Data Collection Instrument (PODCI). Genotype/phenotype correlations were assessed taking into account available data in the literature. Results Orthopedic manifestations are highly prevalent in CS and CFCS, and do overlap in the two disorders. Overall, patients with CS harboring the recurrent HRAS Gly12Ser substitution show a more severe skeletal phenotype compared to patients carrying the Gly12Ala and Gly13Cys variants. Among CFCS patients, those with MAP2K1/2 mutations show different skeletal characteristics compared to BRAF variants, with a higher prevalence of orthopedic abnormalities. Generalized muscular hypotrophy is detected in most recruited patients. Functional assessment demonstrates that patients with CS and CFCS reach lower values compared to the general population with CFCS patients showing the lowest scores. Conclusions Orthopedic manifestations appear universal features of CS and CFCS and they can evolve along patients’ life. Longitudinal assessment of disability status by using 6MWT and PODCI could be useful to evaluate the functional impact of orthopedic and neurological manifestations on patients’ outcome, and help monitoring planning a tailored treatment of these comorbidities." @default.
- W4285668916 created "2022-07-17" @default.
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- W4285668916 date "2020-06-29" @default.
- W4285668916 modified "2023-09-26" @default.
- W4285668916 title "Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status" @default.
- W4285668916 doi "https://doi.org/10.21203/rs.3.rs-37966/v1" @default.
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