Neurologic Abnormalities in Williams Syndrome
نویسندگان
چکیده
منابع مشابه
Evolution of neurologic features in Williams syndrome.
As a part of a large multidisciplinary clinical and research follow-up study, 47 Williams syndrome patients underwent detailed neurologic testing. Because previous studies have documented the absence of major neurologic signs in Williams syndrome, the neurologic testing focused on soft signs. Previous findings of impairment of both gross and fine motor coordination were confirmed, and the prese...
متن کاملMetabolic abnormalities in Williams-Beuren syndrome.
BACKGROUND Williams-Beuren syndrome (WBS, OMIM-194050) is a neurodevelopmental disorder with multisystemic manifestations caused by a 1.55-1.83 Mb deletion at 7q11.23 including 26-28 genes. Reported endocrine and metabolic abnormalities include transient hypercalcaemia of infancy, subclinical hypothyroidism in ∼ 30% of children and impaired glucose tolerance in ∼ 75% of adult individuals. The p...
متن کاملChromosome abnormalities and Williams-Beuren syndrome.
Telvi et al' recently reported on a 27 month old girl with an unbalanced de novo translocation, t(X;21)(q28;ql 1), and diagnosed this child as having an incomplete form of Williams-Beuren syndrome (WBS). This was based on some symptoms specific to WBS, such as craniofacial dysmorphism, delayed psychomotor development, short stature, horseshoe kidneys, and a positive WBS score of + 4.09.2 We do ...
متن کاملCardiovascular abnormalities in Williams syndrome: 20 years'experience in Istanbul.
AIMS Williams syndrome (WS) is a microdeletion syndrome affecting cardiovascular and connective tissue as well as the endocrine and central nervous systems in 1 in 10,000 live births. This study aims to identify and evaluate cardiovascular abnormalities (CVAs) in 45 WS patients. PATIENTS AND METHODS We retrospectively reviewed a cohort of WS patients who were followed at our institution from ...
متن کاملCerebellar abnormalities in infants and toddlers with Williams syndrome.
One commonly observed neuroanatomical abnormality in adults with Williams syndrome is an enlarged cerebellum relative to a small cerebrum. Our study is the first to examine neuroanatomy in young children with Williams syndrome. Clinical brain MRI was examined in nine young children with Williams syndrome (mean age 21 months, range 7 to 43 months) relative to nine age- and sex-matched normally d...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2007
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-21-6-6