Williams syndrome (WS) is associated with atypical social communication and cognition reminiscent of the behaviours observed in autism. Nonetheless, WS also differs significantly from autism, such as regarding social motivation, which is typically enhanced in WS and reduced in autism. This study sought...
Thirteen of 41 patients (32%) with Williams syndrome in a multidisciplinary clinic were noted to have genitourinary symptoms. The predominant features were increased urinary frequency and daytime wetting. Four patients had bladder diverticula and uninhibited detrusor contractions as demonstrated on urodynami...
Williams Syndrome, a rare neurodevelopmental disorder that affects about one in 10,000 babies born in the United States, produces a range of symptoms including cognitive impairments, cardiovascular problems, and extreme friendliness, or hypersociability. In a study ofmice, MIT neuroscientists have garne...
The Williams-Beuren syndrome is a genomic disorder (prevalence: 1/7,500 to 1/20,000), caused by a hemizygous contiguous gene deletion on chromosome 7q11.23. Typical symptoms comprise supravalvular aortic stenosis, mental retardation, overfriendliness and visuospatial impairment. The common deletion ...
Syndrome Case 1 The Antiphospholipid Syndrome Case 2 Venous Thrombosis Case 1 Venous Thrombosis Case 2 Atherothrombosis: Disease Initiation, Progression, and Treatment Case 1 Atherothrombosis: Disease Initiation, Progression, and Treatment Case 2 Lymphocytes and Plasma Cells Lymphocytosis and Lymphocytopenia ...
Children with neurogenetic syndromes (NGS) experience comorbid challenging behaviors and psychopathology. We examined challenging behaviors in 86 toddlers and preschoolers across three NGS [Angelman syndrome (AS), Prader–Willi syndrome (PWS), and Williams syndrome (WS)] and 43 low-risk controls (LRC...
Bartolomeo Augello3, Carmela Fusco3,4, Maria Giuseppina Turturo3, Serena Forzano1, Alexandre Reymond2 and Giuseppe Merla*,3 Williams–Beuren syndrome (WBS; OMIM no. 194050) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion of 1.55 Mb on chromosome 7q11.23 spanning ...
The most frequent symptoms are represented by recurrent pulmonary infections from childhood. Multislice spiral dynamic CT has a major role in the study of cystic pulmonary disease and in differentiating Williams-Campbell syndrome from the other causes of cystic bronchiectasis, in which even lung ...
symptoms are so variable - and because they are similar to the symptoms of arthritis, multiple sclerosis, and other conditions - Sjogren's often goes undiagnosed. The average patient goes more than six years after symptoms show up before getting diagnosed, according to the Sjogren's Syndrome ...
Deny Menghini2, Paolo Alfieri2, Maria Cristina Digilio3, Barbara Mandriani1,4, Massimo Carella1, Orazio Palumbo1, Stefano Vicari2 and Giuseppe Merla*,1,5 Williams Beuren syndrome (WBS) is a multisystemic disorder caused by a hemizygous deletion of 1.5 Mb on chromosome 7q11.23 spanning 28...