Williams-Beuren syndrome (WBS), a.k.a. Williams syndrome, is a multisystem neurodevelopmental disorder characterized by subtle, distinctive facial features and intellectual disabilit...
Prenatal growth deficiency
In very young children: mild growth retardation (occasionally, m...
The most recent American Academy of Pediatrics guidelines for health care supervision of children and adolescents specific to this syndrome 2001 (1)[C]
Generally needs lifelo...
Annual health maintenance during childhood; increased monitoring, as needed
BP measu...
Ghaffari M, Tahmasebi Birgani M, Kariminejad R, et al. Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 regi...
WBS is a multisystem neurodevelopmental disorder characterized by distinctive facial features and intellectual disabilities.
These include a characteristic cognitive behavioral profile ...
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FIGURE 30.26. Fluorescence in situ hybridization in A employed a chromosome 5 painting probe on a cell from a patient with severe mental retardation and self-abusive behavior. On G-banded analysis, an abnormal dark staining band was seen in the p arm of chromosome 1. Using a 24-chromosome painting probe device (Cytocell, Ltd., Oxfordshire, UK), the abnormal segment was identified to be derived from chromosome 5 and confirmed using another chromosome 5 painting probe (Vysis, Inc, Downer's Gr...
FIGURE 30.26. Fluorescence in situ hybridization in A employed a chromosome 5 painting probe on a cell from a patient with severe mental re...
FIGURE 4.6. <bold>A:</bold> Williams syndrome. The facial appearance in patients is remarkably uniform. This boy’s eyebrows flare medially, his nasal bridge is depressed, the epicanthal folds are prominent, and the nares are anteverted. Note prominent lips and full cheeks. (Courtesy of Prof. K. Kruse, Medizinische Universität zu Lübeck, Germany, and Dr. R. Pankau, Universitäts Kinderklinik, Kiel, Germany.) <bold>B:</bold> Williams syndrome. A stellate pattern exists in the iris. (Courtesy Dr. G. Holmst...
FIGURE 4.6. <bold>A:</bold> Williams syndrome. The facial appearance in patients is remarkably uniform. This boy’s eyebrows fla...