Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.

Chiara LeoniDomenico Marco RomeoMichele PelliccioniMariangela Di GiàRoberta OnesimoValentina GiorgioElisabetta FlexMarta TedescoMarco TartagliaDonato RiganteAntonio ValassinaGiuseppe Zampino

Published in: Orphanet journal of rare diseases (2021)

Orthopedic manifestations appear universal features of CS and CFCS and they can evolve across patients' life. Longitudinal assessment of disability status by using 6MWT and PODCI could be useful to evaluate the functional impact of orthopedic manifestations on patients' outcome and help planning a tailored treatment of these comorbidities.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
multiple sclerosis