Nose and throat

Nose and throat

In individuals with CdLS, the nose is often characterised by a low, inward curving nasal bridge and easily visible nostrils. Recurrent sinus infections are common in CdLS and are thought to be caused by an atypically structured nose and impaired immune system (⁵⁵). Some individuals with CdLS have been reported to have soft, painless growths on the lining of their nasal passages or sinuses (nasal polyps) (²).

Treatment of sinus infections in CdLS is the same as for the general population (¹¹²,¹¹³). If an individual with CdLS has an immune deficiency (where the body has a lower ability to fight infection) more aggressive treatment may be required. This could include immunoglobulins (antibodies that fight infection) and antibiotic treatment (⁶²).

Intubation (inserting a tube through the mouth into the airway during medical procedures) can be difficult in individuals with CdLS. This is because individuals usually have a small mouth, small chin, short neck, stiff jaw joints and cleft palate (⁵²,¹¹⁴). Therefore, anaesthesiologists should be made aware of the potential difficulty with intubation in individuals with CdLS before surgery (R42).

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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Zuletzt geändert von Gerritjan Koekkoek am 2022/09/29 16:10

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