Biol. Williams syndrome predisposes to vascular stiffness modified by antihypertensive use and copy number changes in NCF1. Rev. Pediatr. Adamo, A. et al. J. Hum. J. Physiol. Pulmonary function in Williams-Beuren syndrome: spirometric data of 22 Italian patients. Thromb. Burch, T. M., McGowan, F. X. Jr., Kussman, B. D., Powell, A. J. Am. Scherer, S. W. et al. Sadler, L. S. et al. It causes many developmental problems. Genet. Mol. Kozel, B. 6, 483492 (2017). Mervis, C. B. conducted the family experience interview. Wimmer, R. A. et al. Alesi, V. et al. Williams syndrome, also called Williams-Beuren syndrome, is a rare genetic disorder. Biol. Baraks experiments on mice demonstrated that you can reverse some of the brain changes associated with Williams syndrome using a standard antihistamine drug. Case Stud. 145C, 280290 (2007). Barbara R. Pober. 6, 249261 (2015). Mulik, V. V., Temple, K. I. A 149A, 302314 (2009). Nat. Williams-Beuren syndrome (WBS; OMIM #194050) is a multisystem developmental disorder caused by the hemizygous deletion of ~26 genes on chromosome 7q11.23 [Scherer and Osborne, 2006].This region of chromosome 7 frequently undergoes genomic rearrangement due to the presence of low copy repeats (LCRs) that promote non-allelic homologous recombination during meiosis [Bays et al . Disabil. 11, 395406 (2000). J. Disabil. Vijayakumar, A. et al. Cell. Res. Genet. This paper posits that elastin insufficiency impacts the circumferential growth of developing arteries. Genet. This is the largest study (n=48) that discusses risks associated with anaesthesia in individuals with WS. Cherniske, E. M. et al. Psychol. 60, 10311042 (2016). Makeyev, A. V. & Bayarsaihan, D. New TFII-I family target genes involved in embryonic development. J. Biol. Cell Signal. A. Pediatrics 145, e20193761 (2020). A deficit in this protein thickens the artery walls with muscle, leading to lifelong cardiovascular problems. Halabi, C. M. et al. Copes, L. E., Pober, B. R. & Terilli, C. A. Symptoms of Williams syndrome are: Feeding problems, including colic, reflux, and vomiting. Chem. Neuropsychol. Too skinny and problems gaining weight. Leyfer, O., Woodruff-Borden, J. J. Intellect. Chimge, N. O., Makeyev, A. V., Ruddle, F. H. & Bayarsaihan, D. Identification of the TFII-I family target genes in the vertebrate genome. Neurobiol. J. Hum. We perfor Nat. B.B. Disord. 49, 576608 (2008). GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays. Lang. 68, 4148 (2021). J. Autism Dev. Urban, Z. et al. Am. Osborne, L. R. & Mervis, C. B. Jarvinen, A., Korenberg, J. R. & Bellugi, U. An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. https://www.ncbi.nlm.nih.gov/gene/, Kozel, B.A., Barak, B., Kim, C.A. Read: Why were sometimes kind without reason. Signs and symptoms include mild to moderate intellectual disability; unique personality traits; distinctive facial features; and heart and blood vessel problems. J. Med. A novel recurrent breakpoint responsible for rearrangements in the Williams-Beuren region. PubMed Central 141B, 615622 (2006). Delgado, L. M. et al. 146, 541551 (1957). 32, 756759 (2012). Opin. Care Dent. Tam, E. et al. 10, 141150 (1999). J. Intellect. This syndrome was first described in 1961 as a triad of supravalvular aortic stenosis, learning difficulties and unusual facial features. 100, 103609 (2020). 46, 514523 (2005). Sign up for the Nature Briefing newsletter what matters in science, free to your inbox daily. Ramdas, S. & Servais, L. New treatments in spinal muscular atrophy: an overview of currently available data. Res. Perez-Garcia, D., Brun-Gasca, C., Perez-Jurado, L. A. Am. Reilly, C., Senior, J. BMC Pregnancy and Childbirth Symptoms that appear in infancy may include: A weak cry. Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome. The team also examined tissues from people who had duplicated copies of BAZ1Bwhich, as expected, produced the opposite effect, resulting in greater neural-crest migration. Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. Integrin beta3 inhibition is a therapeutic strategy for supravalvular aortic stenosis. Tebbenkamp, A. T. N. et al. Genet. Van Herwegen, P. Ortiz-Romero, who co-reviewed with V. Campuzano, and the other, anonymous, reviewer(s) for their contribution to the peer review of this work. 17, 269271 (2002). Barak, B. Cardiologists first identified the basic attributes of Williams syndrome in the 1960s, but it was only in the 1990s that scientists managed to pinpoint the conditions genetic basis. The loss of another gene, BAZ1B, impairs the migration and survival of what are known as neural-crest cells across the body. Jiao, Y. et al. 87, 18281834 (1991). MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3 UTR and coding-sequence binding sites. Van Herwegen, J., Ashworth, M. & Palikara, O. Parental views on special educational needs provision: cross-syndrome comparisons in Williams syndrome, Down syndrome, and autism spectrum disorders. 50, 151160 (2006). 146, 187194 (2015). Mervis, C. B., Greiner de Magalhes, C. & Cardoso-Martins, C. Concurrent predictors of word reading and reading comprehension for 9-year-olds with Williams syndrome. A 182, 10081020 (2020). Application of CRISPR/Cas9 to the study of brain development and neuropsychiatric disease. Barnett, C. et al. A 167, 14361450 (2015). Morris, C. A., Braddock, S. R. & Council On Genetics. Williams syndrome occurs spontaneously, not as the result of an inherited characteristic from either parent (unless the parent has Williams syndrome). A 170A, 148155 (2016). Williams syndrome is an inherited or genetic condition. Novel arterial pathology in mice and humans hemizygous for elastin. Desgranges, Z. P. et al. Eur. J. Pediatr. Developmental delay, mild to moderate intellectual disability, learning disorders. Misra, A. et al. Arterioscler. Circ. Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome. To obtain Brain 142, 39633974 (2019). Shifren, A., Durmowicz, A. G., Knutsen, R. H., Hirano, E. & Mecham, R. P. Elastin protein levels are a vital modifier affecting normal lung development and susceptibility to emphysema. Li, D. Y. et al. N. Engl. Psychol. A. et al. Lumaka, A. et al. 146, 181186 (2015). Proc. Circulation 26, 12351240 (1962). The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms. Vasc. Am. Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. Marshall, C. R. et al. Social cognition in Williams syndrome: genotype/phenotype insights from partial deletion patients. Fisher, M. H. & Morin, L. Addressing social skills deficits in adults with Williams syndrome. Opin. Nature 565, 505510 (2019). Summary Read the full fact sheet Williams syndrome is a rare genetic disorder that is caused by the deletion of genetic material on chromosome 7. Sakurai, T. et al. Disabil. Ashworth, T. & Roy, A. L. Phase specific functions of the transcription factor TFII-I during cell cycle. 22, 681683 (2019). 122, 156172 (2017). Richards, C., Jones, C., Groves, L., Moss, J. 36, 345352 (1990). Couns. Ann. Sarimski, K. Behavioural phenotypes and family stress in three mental retardation syndromes. 51, 169178 (2020). PubMed Nat. Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome. Lalli, M. A. et al. Baldassari, S. et al. 04 January 2023, Orphanet Journal of Rare Diseases Congenit. Mervis, C. B., Kistler, D. J., John, A. E. & Morris, C. A. Longitudinal assessment of intellectual abilities of children with Williams syndrome: multilevel modeling of performance on the Kaufman brief intelligence test-second edition. But he just doesnt go there, you know? Dev. J. Med. Child. Genet. Thom, R. P., Pober, B. R. & McDougle, C. J. Psychopharmacology of Williams syndrome: safety, tolerability, and effectiveness. Dev. Paediatr. & Silverman, E. K. Pulmonary function and emphysema in Williams-Beuren syndrome. J. Med. How does Williams syndrome affect my child? van Hagen, J. M. et al. Magavern, E. F. et al. B.R.P. Jefferson J. Psychiat. J. Med. Drug Saf. Further investigations of the condition might provide much more evidence for the self-domestication hypothesis and its consequences for human nature. & Mervis, C. B. Behavioral profiles of children with Williams syndrome from Spain and the United States: cross-cultural similarities and differences. Early Educ. Genet. 5, 1116 (1993). Collins, R. T. II Cardiovascular disease in Williams syndrome. Other symptoms include failure to gain weight appropriately in infancy ( failure to thrive) and low muscle tone. But the drug also reduced hyper-sociality. Besides their gregariousness, people with Williams syndrome have a distinctive physical appearance, with delicate features such as a small, upturned nose and a pointed chin. & Bellugi, U. Klein-Tasman, B. P., van der Fluit, F. & Mervis, C. B. Autism spectrum symptomatology in children with Williams syndrome who have phrase speech or fluent language. Cytogenet. Hum. This paper demonstrates the neuronal functions of Gtf2i in mediating myelination properties in the mouse brain and that correcting myelination deficits rescues social and motor behaviourdeficits; light is also shed on molecular and cellular defects related to myelination deficits in the brain of individuals with WS. J. Intellect. Brain Behav. Porter, M. A. Soc. 18, 683694 (2008). Phenotypic psychiatric characterization of children with Williams syndrome and response of those with ADHD to methylphenidate treatment. 1 It is present at birth with a prevalence of 1 in 7500 2 and affects boys and girls equally. Kozel, B. Levy, Y. Is it Williams syndrome? Ann. Genet. Psychiat. 46, 323331 (2007). Opposing functions of TFII-I spliced isoforms in growth factor-induced gene expression. Genet. Am. 29, 578589 (2016). C. Semin. Neurosci. Google Scholar. Invest. Report of 16 cases and review of literature. 8, e1002458 (2012). Exactly why the myelin loss could influence social behavior is still a mystery, but one of the scientists, Boaz Barak, believes that it might disrupt communication between the amygdala, which processes emotions such as fear, and the frontal cortex, which is important for decision making. J. Hum. Res. Genet. Neurosci. B Neuropsychiatr. Res. Williams Syndrome Guideline Development Group. A Clinical Guideline. Child. Monkabas hyper-sociality is just one sign of his rare genetic condition. B. Supravalvular aortic stenosis. Nat. Hirano, E., Knutsen, R. H., Sugitani, H., Ciliberto, C. H. & Mecham, R. P. Functional rescue of elastin insufficiency in mice by the human elastin gene: implications for mouse models of human disease. Variability in early communicative development. McGoon, D. C., Mankin, H. T., Vlad, P. & Kirklin, J. W. The surgical treatment of supravalvular aortic stenosis. 25, 12941306 (2016). DSM-4: Diagnostic and Statistical Manual of Mental Disorders 4th ed. This paper reports the cardiovascular outcomes from a large number of individuals with WS over a range of 0.525 years (average 6 years) of age. Udwin, O., Howlin, P., Davies, M. & Mannion, E. Community care for adults with Williams syndrome: how families cope and the availability of support networks. 6, 366377 (1964). Dutra, R. L. et al. Prim. & Pober, B. R. The proceedings of the 15th professional conference on Williams syndrome. Stenosis coexists with compromised alpha1-adrenergic contractions in the ascending aorta of a mouse model of Williams-Beuren syndrome. the use of genetic testing to confirm the diagnosis has demonstrated that WS is one of the more common genetic disorders with an estimated incidence of 1:7500 live births . Transcription factor 2I regulates neuronal development via TRPC3 in 7q11.23 disorder models. Dai, L. et al. Google Scholar. Young. Morris, C. A., Thomas, I. T. & Greenberg, F. Williams syndrome: autosomal dominant inheritance. Physical Activity for People with Disability https://www.cdc.gov/ncbddd/disabilityandhealth/features/physical-activity-for-all.html (2020). Pediatr. Anesth. Disord. J. Autism Dev. 4, 2839 (2011). Wu, F. Y. et al. Am. J. 80, 102111 (2018). Sharma, P. et al. C.A.K. Arch. Genet. Res. Genet. The authors thank the persons with WS and their families belonging to the Associao Brasileira de Sndrome de Williams, Canadian Association for Williams Syndrome, WIlliams Syndrome Australia Limited, and Williams Syndrome Association (USA) for continued participation in studies and the support of research that allows the knowledge of WS to grow. Dev. Am. Children with WS usually come to the attention of pediatricians during infancy or early childhood. As your child grows, they may face challenges as a result of their diagnosis, but they can reach their full potential with early intervention and treatment. Clinical diagnostic interview of psychopathology and behaviour, as opposed to just a symptom checklist. Disabil. Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome. Thyroxine or free thyroxine (T4 or free T4) level is the actual level of thyroid hormone is flowing throughout the body. J. Med. These often occur side by side with striking verbal abilities, highly social personalities, and an affinity for music. Life Sci. https://doi.org/10.1038/s41572-021-00276-z. Levitin, D. J., Cole, K., Lincoln, A. Still, scientists such as Barak are keen to tread carefully in treating the cognitive and behavioral differences. 12, 133142 (2017). Lond. 56, 33133325 (2019). Abstract Williams syndrome (WS) is a multisystem disorder caused by deletion of about 1.55 . J. Med. Mol. The next step was to examine the role of neural-crest cells in evolution. PubMed Common medical characteristics include cardiovascular issues, kidney anomalies, and gastrointestinal problems. 7, 380393 (2006). Some clues may lie in those 20-odd genes on chromosome 7. 50, 676682 (2020). J. Med. & Barak, B. Anesth. C. Semin. MacArthur-Bates Communicative Development Inventories: Users guide and technical manual 2nd edn, (Brookes, 2007). 76, 893901 (2019). Lugo, M. et al. Frangiskakis, J. M. et al. Updated perspectives on vascular cell specification and pluripotent stem cell-derived vascular organoids for studying vasculopathies. 118, 538542 (2006). 36, 255272 (2011). Genet. Am. 99, 79114 (2019). Segura-Puimedon, M. et al. Fifteen of the 21 Williams patients had a mild supravalvar aortic stenosis (range 12-20 mm Hg). Faury, G. et al. & Thurmond, D. C. Exocytosis proteins as novel targets for diabetes prevention and/or remediation? Challenges in clinical diagnosis of Williams-Beuren syndrome in sub-Saharan Africans: case reports from Cameroon. Young. Her son was so charming that her friends used to suggest that he work as an emcee for charity events. Over time, the species as a whole became less hostile and more cooperative. That could reduce aggression and promote cooperation by reducing the adrenal glands, while also resulting in the more delicate facial features that are common to humans and domesticated animals. He told me about the ups and downs of his childhood and how much he loves performingas a drummer and vocalist, and also as a professional clown. 78, 533542 (2006). Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome. Res. Location & Contact Education & Experience Overview Dr. Colleen A. Morris is a clinical geneticist in Las Vegas, Nevada. Prader-Willi syndrome is a rare genetic disorder that results in physical, mental and behavioral problems, including a constant sense of hunger. 22, 6470 (2014). Genet. Williams syndrome is a genetic condition that affects many parts of the body. & Griendling, K. K. NADPH oxidases: functions and pathologies in the vasculature. Plissart, L. & Fryns, J. P. Early development (5 to 48 months) in Williams syndrome. Sanchez-Mora, C. et al. Zitzer-Comfort, C., Doyle, T., Masataka, N., Korenberg, J. Gillooly, A. E., Riby, D. M., Durkin, K. & Rhodes, S. M. Peer relationships in children with Williams syndrome: parent and teacher insights. ISSN 2056-676X (online). J. Thorac. Mol. Prader-Willi syndrome affects each person differently. Williams syndrome (WS) is a rare genetic disorder. Stromme, P., Bjornstad, P. G. & Ramstad, K. Prevalence estimation of Williams syndrome. Olson, T. M. et al. Google Scholar. Genet. 32, 10471057 (2019). 90, 10711078 (2012). 65, 123147 (2018). Wang, Y. et al. Clin. Invest. Cell 86, 5969 (1996). Dev. & Preece, M. A. Res. A 176, 11281136 (2018). J. Thorac. Thank you for visiting nature.com. Huang, A. H. et al. This region includes various genes with diverse functions, from regulating immune function to controlling organ growth and development. Genet. Thorac. Epigenomics 5, 911 (2013). J. Respir. 5, 311321 (2003). 59, 1173 (1994). Karagiannis, P. et al. Subclinical hypothyroidism. Genet. Hum. Am. Nature Reviews Disease Primers thanks A. Selicorni, D. Gothelf, J. Neurosci. Morigny, P. et al. American Heart Association. 84, 169176 (2020). Lancet Psychiat. Am. Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting. Outcome in adult life for people with Williams syndrome results from a survey of 239 families. Disabil. Sammour, Z. M. et al. Edgin, J. O., Pennington, B. F. & Mervis, C. B. Neuropsychological components of intellectual disability: the contributions of immediate, working, and associative memory. Brain 8, 77 (2015). & Bursch, J. Khonsari, S.) 276280 (Aspen Publishers, 1988). 10, 410 (2019). Ultimately, though, such characteristics probably arise through many different mechanisms. Dev. Open Access Genet. J. Intellect. Acta Paediatr. Science 314, 122125 (2006). Pankau, R. et al. Res. Disabil. Slove, S. et al. Ben has already undergone multiple surgeries as a result of his Williams syndrome, though he tends to downplay his discomfort. Thromb. 22 December 2022, Access Nature and 54 other Nature Portfolio journals, Get Nature+, our best-value online-access subscription, Receive 1 digital issues and online access to articles, Prices may be subject to local taxes which are calculated during checkout. Cognitive profile of young children with Williams syndrome. Klein-Tasman, B. P. & Albano, A. M. Intensive, short-term cognitive-behavioral treatment of OCD-like behavior with a young adult with Williams syndrome. Am. Genet. Martin, L. A., Iceberg, E. & Allaf, G. Consistent hypersocial behavior in mice carrying a deletion of Gtf2i but no evidence of hyposocial behavior with Gtf2i duplication: implications for Williams-Beuren syndrome and autism spectrum disorder. C.B.M. Neurosci. 154C, 266276 (2010). Hum. Thromb. Cell 24, 301308 (2006). Stock, A. D. et al. Opin. Clin. Pao, M. & Bosk, A. Anxiety in medically ill children/adolescents. Causes of Williams Syndrome Williams Syndrome is caused by a change in a certain area of chromosome 7. Fhayli, W. et al. was supported by a Canada Research Chair in the Genetics of Neurodevelopmental Disorders. J. Med. Am. developed the outline for the manuscript, engaged the contributors and synthesized the final manuscript. Mol. Arterioscler. L.R.O. 92, 166171 (2017). 7q11.23 deletion and duplication. Pediatrics 80, 8591 (1987). Am. Campuzano, V. et al. J. Pediatr. Morris, C. A. et al. This paper presents the largest series of facial photographs of individuals with WS from multiple regions throughout the world; this is crucial for increasing international awareness of WS. Perioperative morbidity in children with elastin arteriopathy. Cell. They were really friendly.. Williams syndrome (WS) is a genetic condition that is present at birth and can affect anyone. Anomalies of the abdominal aorta in Williams-Beuren syndrome-another cause of arterial hypertension. Am. Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion. Brom, A. G. in Cardiac surgery: safeguards and pitfalls in operative technique (ed. 178, 254260.e4 (2016). Depress. An SNP in an ultraconserved regulatory element affects Dlx5/Dlx6 regulation in the forebrain. Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. Enkhmandakh, B., Bitchevaia, N., Ruddle, F. & Bayarsaihan, D. The early embryonic expression of TFII-I during mouse preimplantation development. Heart Dis. Pharmacother. 11, 61 (2010). WHO Multicentre Growth Reference Study Group. In fact, in many ways, I think that shes more.. 4, 16771679 (1995). Collins, R. T. II, Kaplan, P., Somes, G. W. & Rome, J. J. volume7, Articlenumber:42 (2021) Rev. 48, 19821994 (2018). Nat. Even so, it has been far from clear why selecting for a certain kind of behavior could produce such diverse changes in appearance. Nicita, F. et al. Palikara, O., Ashworth, M. & Van Herwegen, J. J. Med. Dev. 33, 10281035 (2013). 286, 4492644936 (2011). Williams syndrome, also known as Williams-Beuren syndrome, occurs when people are missing of a chunk of DNA containing about 27 genes. Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. Neuropsychol. The age of diagnosis has fallen in regions of the world where technological advances, such as chromosomal microarray, enable clinicians to make the diagnosis of WS without formally suspecting it, allowing earlier intervention by medical and developmental specialists. Parrish, P. C. R. et al. C. Semin. One of the other genes implicated in Williams syndrome, GTF2I, which may also alter neural-crest cell migration and hyper-sociality, has similarly experienced significant changes during recent human evolution, and appears to be altered in other domesticated animals. Am. Genet. Diagnosis and management of systemic hypertension due to renovascular and aortic stenosis in patients with Williams-Beuren syndrome. Karnik, S. K. et al. Autism Spectr. J. Med. Scherer, S. W. & Osborne, L. R. in Genomic disorders. Notes 5, 13 (2012). 30, 53345345 (2010). 29, 149169 (2009). the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Child. 48, 32563259 (2018). Rev. Williams syndrome is a developmental disorder that affects many parts of the body. Res. Eur. Front. 49, 191227 (2015). Williams syndrome (Guilford Press, 2021). 10, 755762 (2007). Metab. Med. Karmiloff-Smith, A. et al. Mol. Psychiat. 112, 14191428 (2003). The 7q11.23 protein DNAJC30 interacts with ATP synthase and links mitochondria to brain development. J. Med. Am. Severe expressive-language delay related to duplication of the Williams-Beuren locus. & Reutens, D. C. Research review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. Pham, P. P., Moller, J. H., Hills, C., Larson, V. & Pyles, L. Cardiac catheterization and operative outcomes from a multicenter consortium for children with Williams syndrome. It also can cause a child to develop more slowly than usual, for example, in walking, talking or learning new things. Mol. Sunken chest. Dis. Zhang, P. et al. This profound change, the theory goes, allowed for agriculture, art, and other forms of culture to flourish. J. Med. Article Development 137, 30893097 (2010). Enkhmandakh, B. et al. The loss of myelin likely impairs the transmission of electrical signals across the brain, which could help explain some of the cognitive difficulties and the lack of motor coordination associated with the condition. A comparative study of the neuropsychiatric and neurocognitive phenotype in two microdeletion syndromes: velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes. 1, 133146 (2019). Knutsen, R. H. et al. 64, 118125 (1999). 43, 454477 (2018). People with Williams syndrome lack 26 to 28 neighboring genes on the seventh human chromosome. Mejhert, N. et al. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits. Mervis, C. B. Heat shock protein 27 gene: chromosomal and molecular location and relationship to Williams syndrome. 30, 653661 (2010). & Jenson, C. B. Supravalvular aortic stenosis. Description of common musculoskeletal findings in Williams syndrome and implications for therapies. Med. Tekendo-Ngongang, C. et al. was funded by the Fritz Thyssen Stiftung and the Israel Science Foundation (Grant No.2305/20). Abu-Sultaneh, S., Gondim, M. J., Alexy, R. D. & Mastropietro, C. W. Sudden cardiac death associated with cardiac catheterization in Williams syndrome: a case report and review of literature. Kinnear, C. et al. Article Fanconi, G., Girardet, P., Schlesinger, B., Butler, N. & Black, J. Chronische hypercalcaemie kombiniert mit osteosklerose, hyperazotaemie, minderwuchs, und kongenitalen Missbildungen [Chronic hypercalcemia, combined with osteosclerosis, hyperazotemia, nanism, and congenital malformations]. Behavioural profile and maternal stress in Greek young children with Williams syndrome. Genet. A study of 14 children. Biol. van der Tuuk, K., Drenthen, W., Moons, P. & Budts, W. Three live-birth pregnancies in a woman with Williams syndrome. Curr. Res. 1 It was quickly recognised as being linked with infantile hypercalcaemia and in 1993, Ewart et al demonstrated the presence of a micro deletion on chromosome 7 (del 7q11.23) in all children with . Genet. Williams, J. C., Barratt-Boyes, B. G. & Lowe, J. B Neuropsychiatr. 84, 3140 (2019). & Sun, L. Intrauterine phenotype features of fetuses with Williams-Beuren syndrome and literature review. Child. Am. Intellectual Assessment of Students with Williams Syndrome. Suppl. J. Med. Drug Discov. The current research aimed to explore the profiles of social behaviour and anxiety . Heart Dis. PLoS One 6, e16250 (2011). J. Intellect. 312, R739R752 (2017). Hum. Elmas, M. & Gogus, B. . Vonarnim, G. & Engel, P. Mental retardation related to hypercalcaemia. 26, 926935 (2016). BMC Res. 38, 844853 (2012). Mol. CAS John, A. E. & Mervis, C. B. Sensory modulation impairments in children with Williams syndrome. was supported by the Williams Syndrome Association (grant number 0111). Biochem. Genet. Skin findings in Williams syndrome. Anat. Williams syndrome (WS) is a complex neurodevelopmental disorder caused by a deletion of ~25 genes on one copy of chromosome 7q11.23 [ Hillier et al., 2003; Osborne, 2006] with an estimated prevalence rate of 1 in 7500 live births [ Strmme et al., 2002 ]. Circulation 127, 21252134 (2013). People with Williams syndrome also often have advanced language skills, outgoing personalities, and a love for music. 20, 293306 (2020). Most people with Williams syndrome are also missing a gene called GTF2I, which contributes to the production of myelin, the fatty sheaths that normally surround our brains neural connections. 23, 64816494 (2014). et al. Mol. Translational Vascular Medicine Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA, The Sagol School of Neuroscience and The School of Psychological Sciences, Tel Aviv University, Tel Aviv, Israel, Department of Paediatrics, Universidade de So Paulo, So Paulo, Brazil, Department of Psychological and Brain Sciences, University of Louisville, Louisville, KY, USA, Department of Medicine, University of Toronto, Toronto, Ontario, Canada, Department of Psychology, Macquarie University, Sydney, Australia, Department of Paediatrics, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA, You can also search for this author in
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