williams syndrome - Medical Dictionary

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williams syndrome		A contiguous gene syndrome associated with a heterozygous microdeletion in the chromosomal region 7q11.23, encompassing the elastin gene. Clinical manifestations include supravalvular aortic stenosis, mental retardation, elfin facies, impaired visuospatial constructive abilities, and transient hypercalcemia in infancy.The condition affects both sexes, with onset at birth or in early infancy. [ Books \| Images \| Discussion groups ]

Additional comments : (Elfin Facies Syndrome, Williams-Beuren Syndrome) Articles Contrast detection in infants with fragile X syndrome. Authors: Farzin F, Whitney D, Hagerman RJ, Rivera SM Journal: Vision Res E-page Original Images. The imaging of the aortic fibrous membrane associated with Williams syndrome. Authors: Ciftçi H, Ozeke O, Kutlay F, Yuvanç U Journal: Anadolu Kardiyol Derg Late onset cerebellar metastasis from oesophageal adenocarcinoma in Williams Syndrome. Authors: Montano N, De Bonis P, Lauriola L, Papacci F, Lucantoni C, Colosimo C, Cioni B, Meglio M Journal: J Neurooncol Three live-birth pregnancies in a woman with Williams syndrome. Authors: van der Tuuk K, Drenthen W, Moons P, Budts W Journal: Congenit Heart Dis Implementation of Fluorescent In Situ Hybridization (FISH) as a method for detecting microdeletion syndromes - our first experiences. Authors: Sukarova-Angelovska E, Piperkova K, Sredovska A, Ilieva G, Kocova M Journal: Prilozi Early development in Williams syndrome. Authors: Tsai SW, Wu SK, Liou YM, Shu SG Journal: Pediatr Int [Williams syndrome in 2-year-old boy] Authors: Hutyra T, Iwa?czak B, Mowszet K, Kosmowska A Journal: Wiad Lek Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum. Authors: Orellana C, Bernabeu J, Monfort S, Roselló M, Oltra S, Ferrer I, Quiroga R, Martínez-Garay I, Martínez F Journal: J Med Genet A Genetic Model for Understanding Higher Order Visual Processing: Functional Interactions of the Ventral Visual Stream in Williams Syndrome. Authors: Sarpal D, Buchsbaum BR, Kohn PD, Kippenhan JS, Mervis CB, Morris CA, Meyer-Lindenberg A, Berman KF Journal: Cereb Cortex An investigation of voice quality in individuals with inherited elastin gene abnormalities. Authors: Watts CR, Awan SN, Marler JA Journal: Clin Linguist Phon Linguistic profile of individuals with down syndrome: comparing the linguistic performance of three developmental disorders. Authors: Ypsilanti A, Grouios G Journal: Child Neuropsychol Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly. Authors: Merritt JL, Lindor NM Journal: Am J Med Genet A Dual-task processing as a measure of executive function: a comparison between adults with Williams and Down syndromes. Authors: Kittler PM, Krinsky-McHale SJ, Devenny DA Journal: Am J Ment Retard Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior. Authors: Järvinen-Pasley A, Bellugi U, Reilly J, Mills DL, Galaburda A, Reiss AL, Korenberg JR Journal: Dev Psychopathol [Cardiovascular manifestations in 40 patients with Williams syndrome] Authors: Xie CH, Zhao ZY, Yang JB, Qin YF, Shao J, Gong FQ Journal: Zhonghua Xin Xue Guan Bing Za Zhi Successful treatment of a morbidly obese and growth-retarded adolescent with Williams-Beuren Syndrome by combining the medication of growth hormone and sibutramine. Authors: Bahadori B, Uitz E, Tonninger-Bahadori K, Moghadasian MH Journal: Singapore Med J Elastin haploinsufficiency induces alternative aging processes in the aorta. Authors: Pezet M, Jacob MP, Escoubet B, Gheduzzi D, Tillet E, Perret P, Huber P, Quaglino D, Vranckx R, Li DY, Starcher B, Boyle WA, Mecham RP, Faury G Journal: Rejuvenation Res [Cleft palate and Williams syndrome] Authors: Vincent C, Mercier JM, David A Journal: Rev Stomatol Chir Maxillofac Williams syndrome: a genetic deletion disorder presenting clues to the biology of sociability and clinical challenges of hypersociability. Authors: Deutsch SI, Rosse RB, Schwartz BL Journal: CNS Spectr Atypical unfamiliar face processing in Williams syndrome: what can it tell us about typical familiarity effects? Authors: Riby DM, Doherty-Sneddon G, Bruce V Journal: Cognit Neuropsychiatry Williams syndrome. Authors: Karmiloff-Smith A Journal: Curr Biol Vesical prolapse in an apparently "normal" bladder. Authors: Johal NS, Murphy F, Mushtaq I Journal: J Pediatr Surg [William's syndrome] Authors: Rubia Vila FJ Journal: An R Acad Nac Med (Madr) Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Authors: Turner DJ, Miretti M, Rajan D, Fiegler H, Carter NP, Blayney ML, Beck S, Hurles ME Journal: Nat Genet Intonation abilities of children with Williams syndrome: a preliminary investigation. Authors: Stojanovik V, Setter J, van Ewijk L Journal: J Speech Lang Hear Res Surgical repair of congenital supravalvular aortic stenosis in adult. Authors: Coskun TS, Coskun OK, El Arousy M, Blanz U, Bockhorst K, Bairaktaris A, Kececioglu D, Körfer R Journal: ASAIO J Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders. Authors: Castelo-Branco M, Mendes M, Sebastião AR, Reis A, Soares M, Saraiva J, Bernardes R, Flores R, Pérez-Jurado L, Silva E Journal: J Clin Invest Expecting the worst: Observations of reactivity to sound in young children with Williams syndrome. Authors: Gallo FJ, Klein-Tasman BP, Gaffrey MS, Curran P Journal: Res Dev Disabil Fronto-parietal and cerebellar contributions to motor dysfunction in Williams syndrome: a review and future directions. Authors: Hocking DR, Bradshaw JL, Rinehart NJ Journal: Neurosci Biobehav Rev Implicit memory is independent from IQ and age but not from etiology: evidence from Down and Williams syndromes. Authors: Vicari S, Verucci L, Carlesimo GA Journal: J Intellect Disabil Res More is not always better: increased fractional anisotropy of superior longitudinal fasciculus associated with poor visuospatial abilities in Williams syndrome. Authors: Hoeft F, Barnea-Goraly N, Haas BW, Golarai G, Ng D, Mills D, Korenberg J, Bellugi U, Galaburda A, Reiss AL Journal: J Neurosci Nature and nurture: Williams syndrome across cultures. Authors: Zitzer-Comfort C, Doyle T, Masataka N, Korenberg J, Bellugi U Journal: Dev Sci Pragmatic language profiles of school-age children with autism spectrum disorders and Williams syndrome. Authors: Philofsky A, Fidler DJ, Hepburn S Journal: Am J Speech Lang Pathol Memory abilities in Williams syndrome: dissociation or developmental delay hypothesis? Authors: Sampaio A, Sousa N, Férnandez M, Henriques M, Gonçalves OF Journal: Brain Cogn Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification. Authors: van Hagen JM, Eussen HJ, van Schooten R, van Der Geest JN, Lagers-van Haselen GC, Wouters CH, De Zeeuw CI, Gille JJ Journal: Genet Test Demonstration of peripheral pulmonary stenosis and supravalvular aortic stenosis by different cardiac imaging modalities in a patient with Williams syndrome - usefulness of noninvasive imaging studies. Authors: Park JH, Kim HS, Yong Jin G, Joo CU, Ko JK Journal: Int J Cardiol [Congenital cervical vertebral dysmorphism. Syndromatic integration through radiological clinical correlation] Authors: Santillán Chapa CG, Martínez Coria E, Reyes Marín B, García Gutiérrez G Journal: Acta Ortop Mex Autism and vitamin D. Authors: Cannell JJ Journal: Med Hypotheses Pulmonary and aortic stenosis measurement in Williams-Beuren syndrome. Authors: Taksande A, Vilhekar K Journal: Acta Paediatr Theory of Mind in Williams Syndrome Assessed Using a Nonverbal Task. Authors: Porter MA, Coltheart M, Langdon R Journal: J Autism Dev Disord Evaluation of a commercially available focused aCGH platform for the detection of constitutional chromosome anomalies. Authors: Shearer BM, Thorland EC, Gonzales PR, Ketterling RP Journal: Am J Med Genet A Studies of age-correlated features of cognitive-behavioral development in children and adolescents with genetic disorders. Authors: Fisch GS, Carpenter N, Howard-Peebles PN, Holden JJ, Tarleton J, Simensen R, Nance W Journal: Am J Med Genet A Global and Local processing in Williams Syndrome: Drawing versus Perceiving. Authors: Rondan C, Santos A, Mancini J, Livet MO, Deruelle C Journal: Child Neuropsychol Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome. Authors: Marenco S, Siuta MA, Kippenhan JS, Grodofsky S, Chang WL, Kohn P, Mervis CB, Morris CA, Weinberger DR, Meyer-Lindenberg A, Pierpaoli C, Berman KF Journal: Proc Natl Acad Sci U S A Strategies and biases in location memory in Williams syndrome. Authors: Farran EK Journal: Res Dev Disabil TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome. Authors: Ohazama A, Sharpe PT Journal: Dev Dyn Socio-communicative deficits in young children with Williams syndrome: performance on the Autism Diagnostic Observation Schedule. Authors: Klein-Tasman BP, Mervis CB, Lord C, Phillips KD Journal: Child Neuropsychol Typical and atypical development of visual estimation abilities. Authors: Ansari D, Donlan C, Karmiloff-Smith A Journal: Cortex Tracing syndrome-specific trajectories of attention across the lifespan. Authors: Cornish K, Scerif G, Karmiloff-Smith A Journal: Cortex Orthodontic orthognathic surgical treatment of a subject with Williams Beuren syndrome a follow-up from 8 to 25 years of age. Authors: Habersack K, Grimaldi B, Paulus GW Journal: Eur J Orthod Complex grammar in Williams syndrome. Authors: Perovic A, Wexler K Journal: Clin Linguist Phon Patterns of syntactic development in children with Williams syndrome and Down's syndrome: evidence from passives and wh-questions. Authors: Joffe V, Varlokosta S Journal: Clin Linguist Phon Comprehension of spatial language in Williams syndrome: evidence for impaired spatial representation of verbal descriptions. Authors: Laing E, Jarrold C Journal: Clin Linguist Phon Do children with Williams syndrome really have good vocabulary knowledge? Methods for comparing cognitive and linguistic abilities in developmental disorders. Authors: Brock J, Jarrold C, Farran EK, Laws G, Riby DM Journal: Clin Linguist Phon Affective prosody in children with Williams syndrome. Authors: Setter J, Stojanovik V, Van Ewijk L, Moreland M Journal: Clin Linguist Phon Introduction: Speech and language in Williams syndrome. Authors: Stojanovik V Journal: Clin Linguist Phon General anesthesia for dental treatment in a Williams syndrome patient with severe aortic and pulmonary valve stenosis: suspected episode of postoperatively malignant hyperthermia. Authors: Kohase H, Wakita R, Doi S, Umino M Journal: Oral Surg Oral Med Oral Pathol Oral Radiol Endod Bile duct paucity in infancy. Authors: Sinha J, Magid MS, VanHuse C, Thung SN, Suchy F, Kerkar N Journal: Semin Liver Dis Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Authors: Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW Journal: Genet Med Transitional implants in a patient with Williams-Beuren syndrome: a four-year follow-up. Authors: Mass E, Oelgiesser D, Tal H Journal: Spec Care Dentist [The Williams-Beuren syndrome: reconstruction of the thoracic aorta combining surgery and endovascular treatment] Authors: Abadir S, Dauphin C, Lecompte Y, Lusson JR Journal: Arch Mal Coeur Vaiss Diagnosis and management of medical problems in adults with Williams-Beuren syndrome. Authors: Pober BR, Morris CA Journal: Am J Med Genet C Semin Med Genet Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients. Authors: Ferrero GB, Biamino E, Sorasio L, Banaudi E, Peruzzi L, Forzano S, di Cantogno LV, Silengo MC Journal: Eur J Med Genet [Cross-linguistic assessment of verbal production from a narrative task in Williams Syndrome] Authors: Garayzábal Heinze E, Prieto MF, Sampaio A, Gonçalves O Journal: Psicothema The neuropsychological basis of hypersociability in Williams and Down syndrome. Authors: Porter MA, Coltheart M, Langdon R Journal: Neuropsychologia Genetic influences on the arterial wall. Authors: Kingwell B, Boutouyrie P Journal: Clin Exp Pharmacol Physiol Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development. Authors: Osborne LR, Mervis CB Journal: Expert Rev Mol Med Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling. Authors: O'Driscoll M, Dobyns WB, van Hagen JM, Jeggo PA Journal: Am J Hum Genet Social phenotypes in neurogenetic syndromes. Authors: Feinstein C, Singh S Journal: Child Adolesc Psychiatr Clin N Am Imaging genetics for neuropsychiatric disorders. Authors: Meyer-Lindenberg A, Zink CF Journal: Child Adolesc Psychiatr Clin N Am Unilateral partial absence of the fallopian tube in Williams syndrome: a new feature? Authors: van der Veldt AA, Kleijn SA, Pernet PJ, Oostra RJ, Jansweijer MC Journal: Clin Dysmorphol Incorporating "motivation" into the functional analysis of challenging behavior: on the interactive and integrative potential of the motivating operation. Authors: Langthorne P, McGill P, O'Reilly M Journal: Behav Modif Emotional responsivity in young children with Williams syndrome. Authors: Fidler DJ, Hepburn SL, Most DE, Philofsky A, Rogers SJ Journal: Am J Ment Retard Spatial language in Williams syndrome: evidence for a special interaction? Authors: Lukács A, Pléh C, Racsmány M Journal: J Child Lang Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort. Authors: Wang CC, Hwu WL, Wu ET, Lu F, Wang JK, Wu MH Journal: Acta Paediatr Reno-vascular hypertension in childhood: a nationwide survey. Authors: Bayazit AK, Yalcinkaya F, Cakar N, Duzova A, Bircan Z, Bakkaloglu A, Canpolat N, Kara N, Sirin A, Ekim M, Oner A, Akman S, Mir S, Baskin E, Poyrazoglu HM, Noyan A, Akil I, Bakkaloglu S, Soylu A Journal: Pediatr Nephrol Reduced parietal and visual cortical activation during global processing in Williams syndrome. Authors: Mobbs D, Eckert MA, Menon V, Mills D, Korenberg J, Galaburda AM, Rose FE, Bellugi U, Reiss AL Journal: Dev Med Child Neurol Williams syndrome in Japan: the interplay of genetics and culture. Authors: Journal: Harv Ment Health Lett 3D pattern of brain abnormalities in Williams syndrome visualized using tensor-based morphometry. Authors: Chiang MC, Reiss AL, Lee AD, Bellugi U, Galaburda AM, Korenberg JR, Mills DL, Toga AW, Thompson PM Journal: Neuroimage Evolution of neurologic features in Williams syndrome. Authors: Gagliardi C, Martelli S, Burt MD, Borgatti R Journal: Pediatr Neurol Williams Syndrome: development of a new scoring system for clinical diagnosis. Authors: Sugayama SM, Leone C, Chauffaille Mde L, Okay TS, Kim CA Journal: Clinics Mathematical skill in individuals with Williams syndrome: evidence from a standardized mathematics battery. Authors: O'Hearn K, Landau B Journal: Brain Cogn Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: a unique case of gamma-hydroxybutyric aciduria and Williams syndrome. Authors: Knerr I, Gibson KM, Ganesh J, Bennett MJ, Salomons GS, Jakobs C, Myers SM Journal: Am J Med Genet B Neuropsychiatr Genet Left ventricle myocardial mechanics and textural properties in patients with Williams syndrome. Authors: Verrengia M, Pacileo G, Limongelli G, Di Salvo G, Rea A, Iacomino M, Di Simone A, Russo MG, Calabrò R Journal: J Cardiovasc Med (Hagerstown) Automated extraction of the cortical sulci based on a supervised learning approach. Authors: Tu Z, Zheng S, Yuille AL, Reiss AL, Dutton RA, Lee AD, Galaburda AM, Dinov I, Thompson PM, Toga AW Journal: IEEE Trans Med Imaging [Williams-Beuren syndrome] Authors: Gilbert-Dussardier B Journal: Rev Prat Long-term memory for verbal and visual information in Down syndrome and Williams syndrome: performance on the Doors and People test. Authors: Jarrold C, Baddeley AD, Phillips C Journal: Cortex Pulmonary arterial stent implantation in an adult with Williams syndrome. Authors: Reesink HJ, Henneman OD, van Delden OM, Biervliet JD, Kloek JJ, Reekers JA, Bresser P Journal: Cardiovasc Intervent Radiol Neurodevelopmental and behavioral issues in Williams syndrome. Authors: Paterson SJ, Schultz RT Journal: Curr Psychiatry Rep Binding of visual and spatial short-term memory in Williams syndrome and moderate learning disability. Authors: Jarrold C, Phillips C, Baddeley AD Journal: Dev Med Child Neurol Ligand-induced transrepressive function of VDR requires a chromatin remodeling complex, WINAC. Authors: Kato S, Fujiki R, Kim MS, Kitagawa H Journal: J Steroid Biochem Mol Biol Indicators of theory of mind in narrative production: a comparison between individuals with genetic syndromes and typically developing children. Authors: Lorusso ML, Galli R, Libera L, Gagliardi C, Borgatti R, Hollebrandse B Journal: Clin Linguist Phon GTF2IRD1 regulates transcription by binding an evolutionarily conserved DNA motif 'GUCE'. Authors: Thompson PD, Webb M, Beckett W, Hinsley T, Jowitt T, Sharrocks AD, Tassabehji M Journal: FEBS Lett Successful reconstructive surgery for isolated mitral insufficiency associated with Williams syndrome: report of a case. Authors: Takeda K, Matsumiya G, Iwata K, Sawa Y Journal: Surg Today Fibrous hamartoma of infancy in a patient with Williams syndrome. Authors: Togo T, Araki E, Ota M, Manabe T, Suzuki S, Utani A Journal: Br J Dermatol Language phenotypes and intervention planning: bridging research and practice. Authors: Fidler DJ, Philofsky A, Hepburn SL Journal: Ment Retard Dev Disabil Res Rev Language and communicative development in Williams syndrome. Authors: Mervis CB, Becerra AM Journal: Ment Retard Dev Disabil Res Rev When urine pH really matters. Authors: Parker AL Journal: J Pediatr Health Care [An ECG-anatomical comparison in a case of Williams' syndrome] Authors: Miranda I, Aranda A, Soto V, Medrano GA, de Micheli A Journal: Arch Cardiol Mex Social interaction behaviors discriminate young children with autism and Williams syndrome. Authors: Lincoln AJ, Searcy YM, Jones W, Lord C Journal: J Am Acad Child Adolesc Psychiatry

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