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Lower limb abnormalities


Lower limb abnormalities:

Major lower limb abnormalities are rare in CdLS (46,119). Approximately half of people with CdLS have minor differences in the length of their legs. Leg length differences should be assessed at regular medical check-ups (R46). A small number of individuals with CdLS have a hip disorder due to reduced blood flow to the thigh bone. Hip dislocations may also occur in later life, especially in individuals who are wheelchair bound or bed-ridden (118). Lower limb abnormalities should be managed in the same way as for the general population. Preventative measures are important and can include physical therapy or orthoses (e.g. a brace or splint to support the limbs). Sometimes Botox injections or surgery can be beneficial (120).

Individuals with CdLS frequently experience minor lower limb abnormalities. Individuals may have small feet, toes that are joined together, short fourth toes or inward curving big toes (hallux valgus) (3,10,59). Hallux valgus is often referred to as a ‘bunion’. Bunions are common in adults with CdLS and may cause walking difficulties, though often surgical repair is not required (59,118).

Tight hamstrings and Achilles tendons are fairly common in CdLS. Contractures (permanent shortening of a muscle or joint) can also occur in a small number of individuals (59,115). Contractures in CdLS usually occur in the knees, elbow and/or hip, which can interfere with movement e.g. sitting, standing and walking (118,122).

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Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam
Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018).

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Ultima modifica di Gerritjan Koekkoek il 2022/09/29 16:10
Creato da Gerritjan Koekkoek il 2019/03/27 15:09