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Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status by Leoni, Chiara (author);Romeo, Domenico Marco (author);Pelliccioni, Michele (author);Di Già, Mariangela (author);Onesimo, Roberta (author);Giorgio, Valentina (author);Flex, Elisabetta (author);Tedesco, Marta (author);Tartaglia, Marco (author);Rigante, Donato (author);Valassina, Antonio (author);Zampino, Giuseppe (author) is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Abstract ## Background Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. Due to their rarity, the characterization of the musculo-skeletal phenotype in both disorders has been poorly characterized. ## Patients and methods Herein we reported data on orthopedic findings and functional status of a large sample of CS and CFCS patients. Thirty-four patients (CS = 17 and CFCS = 17) were recruited. Functional and disability evaluations were performed by assessing the 6-min walking test (6MWT) and Pediatric Outcomes Data Collection Instrument (PODCI). Genotype/phenotype correlation was also provided. ## Results Orthopedic manifestations are highly prevalent in CS and CFCS and 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 the MAP2K1/2 variant show different skeletal characteristics compared to BRAF variants, with a higher prevalence of orthopedic abnormalities. Functional assessment showe

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Author

Leoni, Chiara (author);Romeo, Domenico Marco (author);Pelliccioni, Michele (author);Di Già, Mariangela (author);Onesimo, Roberta (author);Giorgio, Valentina (author);Flex, Elisabetta (author);Tedesco, Marta (author);Tartaglia, Marco (author);Rigante, Donato (author);Valassina, Antonio (author);Zampino, Giuseppe (author)

Publisher

Springer Science and Business Media LLC

Published

2021

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)