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).

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).}

Source:

Diagnosis and management in Cornelia de Lange Syndrome: First international consensus statement. Nature Reviews Genetics, 19, 649-666, published on 11 Juli 2018

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Erstellt von Gerritjan Koekkoek am 2019/03/27 15:09