Intestinal malrotation

Intestinal malrotation

A small number of individuals with CdLS have been reported to have intestinal malrotation (¹⁰,²). This is an abnormality that can happen early in pregnancy when a baby’s intestines do not form into a coil in the abdomen. Malrotation means that the intestines (or bowels) are twisted, which can cause a blockage. Intestinal malrotation may recur during infancy, childhood or puberty (⁸⁴,⁸⁵). 

Usually, the first sign of intestinal malrotation is volvulus. Volvulus is a complication of malrotation that occurs when the intestines twist in such a way that the blood supply to part of the bowel is cut off.

Due to a lack of awareness by physicians, atypical symptoms and difficulty in effective communication in individuals with CdLS, intestinal malrotation may go undiagnosed. Intestinal malrotation should be considered in any individual with CdLS who experiences intense abdominal pain, regardless of the individual’s age (R29). Evaluation for the presence of intestinal malrotation should be discussed and decided together with the family, balancing the potential gain in health and burden for the individual with CdLS (R30).

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 lug 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