Alan Williams
Ontology highlight
ABSTRACT:
SUBMITTER: Maynard A
PROVIDER: S-EPMC558550 | biostudies-literature | 2005 Jul
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:Founder of the United Kingdom's first doctors' deputising service
| S-EPMC556090 | biostudies-other
Project description:In the nearly 50 years since the description of Williams syndrome by [Williams et al. (1961); Circulation 24:1311-1318], the focus of scientific inquiry has shifted from identification, definition, and description of the syndrome in small series to genotype-phenotype correlation, pathophysiologic investigation in both humans and in animal models, and therapeutic outcomes in large cohorts. Study of this rare syndrome has provided insight into the structure and function of the extracellular matrix, has contributed to understanding of genomic structure and rearrangement, and is beginning to elucidate genetic underpinnings of learning, language, and behavior. The results of current research not only recommend interventions that can be implemented now, but also identify areas requiring additional investigation, and suggest future therapeutic approaches.
| S-EPMC2946897 | biostudies-literature
Project description: Not available
| S-EPMC1326991 | biostudies-literature
Project description:4 months male child presented with failure to thrive. On general examination child had normal O2 saturation with characteristic elfin facies. Further evaluation of the patient showed major manifestations of Williams syndrome in form of supravalvar aortic stenosis, branched pulmonary artery stenosis along with cardiomyopathy. Although the entity is known, this article shows comprehensive diagnostic workup with the aid of multimodality imaging techniques. The genetic diagnosis of Williams syndrome was confirmed using fluroscent in situ hybridisation techniques (FISH). In this patient most of the manifestations of elastin vasculopathy were noted in the form of involvement of ascending aorta, pulmonary arteries and myocardium. We also want to emphasis the importance of echocardiography in newborn patients with dysmorphic facies as Williams syndrome can be easily missed in neonatal period.
| S-EPMC4475858 | biostudies-other
Project description:Previous examination in a small number of individuals with Williams syndrome (also referred to as Williams-Beuren syndrome) has shown subtly softer skin and reduced deposition of elastin, an elastic matrix protein important in tissue recoil. No quantitative information about skin elasticity in individuals with Williams syndrome is available; nor has there been a complete report of dermatologic findings in this population. To fill this knowledge gap, 94 patients with Williams syndrome aged 7-50 years were recruited as part of the skin and vascular elasticity (WS-SAVE) study. They underwent either a clinical dermatologic assessment by trained dermatologists (2010 WSA family meeting) or measurement of biomechanical properties of the skin with the DermaLab™ suction cup (2012 WSA family meeting). Clinical assessment confirmed that soft skin is common in this population (83%), as is premature graying of the hair (80% of those 20 years or older), while wrinkles (92%), and abnormal scarring (33%) were detected in larger than expected proportions. Biomechanical studies detected statistically significant differences in dP (the pressure required to lift the skin), dT (the time required to raise the skin through a prescribed gradient), VE (viscoelasticity), and E (Young's modulus) relative to matched controls. The RT (retraction time) also trended longer but was not significant. The biomechanical differences noted in these patients did not correlate with the presence of vascular defects also attributable to elastin insufficiency (vascular stiffness, hypertension, and arterial stenosis) suggesting the presence of tissue specific modifiers that modulate the impact of elastin insufficiency in each tissue.
| S-EPMC4134746 | biostudies-literature
Project description:BACKGROUND: Williams-Beuren syndrome (WBS), a rare developmental disorder caused by deletion of contiguous genes at 7q11.23, has been characterized by strengths in socialization (overfriendliness) and communication (excessive talkativeness). WBS has been often considered as the polar opposite behavioral phenotype to autism. Our objective was to better understand the range of phenotypic expression in WBS and the relationship between WBS and autistic disorder. METHODOLOGY: The study was conducted on 9 French individuals aged from 4 to 37 years old with autistic disorder associated with WBS. Behavioral assessments were performed using Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) scales. Molecular characterization of the WBS critical region was performed by FISH. FINDINGS: FISH analysis indicated that all 9 patients displayed the common WBS deletion. All 9 patients met ADI-R and ADOS diagnostic criteria for autism, displaying stereotypies and severe impairments in social interaction and communication (including the absence of expressive language). Additionally, patients showed improvement in social communication over time. CONCLUSIONS: The results indicate that comorbid autism and WBS is more frequent than expected and suggest that the common WBS deletion can result in a continuum of social communication impairment, ranging from excessive talkativeness and overfriendliness to absence of verbal language and poor social relationships. Appreciation of the possible co-occurrence of WBS and autism challenges the common view that WBS represents the opposite behavioral phenotype of autism, and might lead to improved recognition of WBS in individuals diagnosed with autism.
| S-EPMC3295800 | biostudies-other
Project description:Skeletal dysplasias are a group of over 300 genetic conditions often marked by short stature and a range of orthopedic problems. To meet the diverse medical, orthopedic, and psychosocial needs of individuals with skeletal dysplasias, the Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias was organized at Hospital for Special Surgery in 2003. The center is the only one of its kind in the New York City metropolitan area and is dedicated to providing comprehensive medical care for individuals with skeletal dysplasias. The center is staffed by an interdisciplinary core team of health professionals consisting of an orthopedic surgeon, a medical geneticist, a genetic counselor/clinical coordinator, and a social worker. This interdisciplinary team of health professionals is committed to improving the quality of life for people with skeletal dysplasias through clinical care, research, education, and patient advocacy. Goals are achieved through a collaborative process that utilizes the expertise of the different professionals.
| S-EPMC2553170 | biostudies-literature