Growth in Childhood

Growth in Childhood

Birth weights in CdLS are significantly lower than the average birth weight and children with CdLS are almost always short in stature. Young children tend to have a below average weight when compared to others their age, although obesity can occur in later life. A small head size is also often common in individuals with CdLS. Growth charts are available that are specific to individuals with CdLS (⁵⁴). CdLS-specific growth charts should be used to monitor the growth of every child with CdLS (R11).

Growth in CdLS is influenced by the specific gene implicated in the development of CdLS (¹⁰,²⁴). Individuals with CdLS caused by a change in SMC1A tend to show more growth than individuals with CdLS caused by a change in NIPBL (³). If growth is lower than expected in CdLS, there may also be gastrointestinal (stomach/intestines) problems, thyroid gland dysfunction (leading to dysfunction in bodily functions such as metabolism, growth and development) or growth hormone disturbances.
The release of growth hormone (important for growth, body structure and metabolism) is normal in most children with CdLS (⁵⁵). However, a case study with one child with CdLS (NIPBL mutation) with low growth hormone levels experienced a growth increase after being administered growth hormone injections (⁵⁶). The benefits of increased growth from growth hormone supplementation should be weighed against the burden of daily injections and the lack of positive impact of an increased adult height on quality of life for most individuals with CdLS.

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 jul 2018

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Modificado por Gerritjan Koekkoek em 2022/09/29 16:10

Criado por Gerritjan Koekkoek em 2019/03/27 15:09