Williams syndrome (WS) is a highly distinct genetic syndrome with a unique constellation of medical and developmental problems and an associated characteristic personality profile. It is a disorder that should be well-known to most pediatricians, in generalities if not in specifics. Although the ...
According theWilliams Syndrome Association, Williams syndrome is a genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities. These occur side by side with striking verbal abi...
Features the Williams Beuren syndrome, an uncommon congenital disorder caused by deletions of multiple contiguous genes on the long arm of one chromosome. Clinical features; Progress in defining the molecular basis of Williams syndrome; Impact of attention-deficit hyperactivity disorder on individuals with...
2018,Medical Clinics of North America SaraMixterMD, MPH,Rosalyn W.StewartMD, MBA, MS Williams-Beuren Syndrome Williams-Beuren syndrome, also known as Williams syndrome, is a rare neurogenetic developmental disorder characterized by typical facial features, which include dolichocephaly, asymmetry, bite...
Diagnosis and management of medical problems in adults with Williams–Beuren syndrome Williams-Beuren syndrome (WBS) is a multi-system disorder that requires ongoing management by a primary care physician familiar with the natural history an... BR Pober,CA Morris - 《Am J Med Genet C Semin Med...
In order to evaluate the medical, psychological and behavioral aspects of Williams-Beuren syndrome in adulthood, data were collected on 11 patients aged 17 to 66 years. The medical data did not confirm previous reports of significant morbidity. All adults were found to have a moderate or severe...
Reports of adults with Williams syndrome (WS) have been rare. We have evaluated 13 adult WS patients and reviewed 16 case reports of WS in patients older than age 16 years. Adults in our study had progressive multi-system medical problems. Cardiovascular complications were common (12/13) inclu...
Smoot L, Zhang H, Klaiman C, Schultz R, Pober B (2005) Medical overview and genetics of Williams-Beuren syndrome. Progress in Pediatric Cardiology 20:195-205.SMOOT, L. et al. 2005. Medical overview and genetics of Williams-Beuren syndrome. Prog. Pediatr. Cardiol. 20: 195-205....
Pankau R, Partsch CJ, Gosch A et al (1992) Statural growth in Williams-Beuren syndrome. Eur J Pediatr 151:751–755 Article CAS Google Scholar Pober BR, Morris CA (2007) Diagnosis and management of medical problems in adults with Williams-Beuren syndrome. Am J Med Genet C Semin Med Ge...
The bleeding problems are caused by multiple coagulation factor deficiencies, mostly in factors VIII and XI and vWF. In addition, deficiencies in factor XII may be detectable. A number of genetic mutations can result in Noonan syndrome. The condition is inherited as an autosomal dominant condition...