Medscape is available in 5 Language Editions – Choose your Edition here.


Williams Syndrome Treatment & Management

  • Author: Joanna Lazier, MD; Chief Editor: Howard S Weber, MD, FSCAI  more...
Updated: Jan 14, 2015

Medical Care

Williams syndrome is a complex multisystem medical condition that requires a multidisciplinary team. A few large tertiary care centers have Williams syndrome clinics, which help organize and coordinate the care of patients with Williams syndrome. Williams Syndrome Associations are available in the United States and Canada and are a valuable resource for both parents and health care professionals.

Tailor specific management of Williams syndrome to the presenting clinical spectrum. Initial care often centers on failure to thrive, hypercalcemia, or repair of the cardiac lesion. School performance, physical therapy, hyperactivity, and the child's eventual role in society are long-term issues that need to be addressed on an ongoing basis. Anticipatory guidance is essential to help parents prepare for future needs of children with Williams syndrome. Anticipatory care guidelines and growth curves for children with Williams syndrome are available through the American Academy of Pediatrics.[84]

Hypercalcemia, which is noted in approximately 15% of patients with Williams syndrome, is frequently asymptomatic and resolves in the first few years of life but can be lifelong. Signs and symptoms of hypercalcemia, in addition to blood calcium levels, should be periodically monitored throughout life and prior to the administration of any anesthetic or sedative agent and prior to any invasive procedure. Symptomatic hypercalcemia can present with decreased feeding, irritability, and severe colic in infants and may require multidisciplinary management through restriction of calcium, vitamin D intakes (including vitamin formulations), specialized formulas and some patients may require bisphosphonates or steroids to control elevated calcium levels.[85, 86] For more information, see Hypercalcemia.

The goal of managing calcium and vitamin D levels is to monitor and achieve levels in the normal range for age at intakes adequate for bone growth. The need for dietary manipulation and medication to control hypercalcemia should be frequently monitored because long-term unrestricted use of a low calcium, low vitamin D formula has been reported to lead to rickets in a patient with Williams syndrome.[87]

Nephrocalcinosis and sclerosis of the long bones are occasionally observed.

Systemic hypertension should be treated when identified, and surveillance should include annual blood pressure measurements in both arms. For more information see the eMedicine topic in pediatrics for Hypertension or Neonatal Hypertension.

Periodically assess visual problems and hearing loss. Acoustic-visual-behavioral training has been reported to improve symptoms of hyperacusis in an adult.[88] Recurrent otitis media may be treated with placement of tympanostomy tubes.

Patients with short stature should have a bone age assessment and be referred to an endocrinologist for assessment and management of growth hormone deficiency.

Monitor for signs of precocious puberty and arrange referrals with an endocrinologist as necessary.[89] Treatment with gonadotropin-releasing hormone (GnRH) agonists may be considered.

Feeding difficulties in children are common, and referral to a gastroenterologist should be considered.

Thyroid function and glucose tolerance testing should be part of the periodic evaluation.

Early involvement of dentist is suggested.


Surgical Care

For cardiac findings in children with Williams syndrome, early involvement with a pediatric cardiologist and cardiothoracic surgeon is essential.

Supravalvar aortic stenosis (SVAS) is the most frequently observed operable cardiac lesion in Williams syndrome. SVAS may be progressive in some individuals, and life-long cardiac follow-up is recommended.[90] Surgery is generally required in 20%-30% of patients.[91]

Timing of the operative repair depends on the presence of cardiac symptoms, the gradient across the supraaortic obstruction, and whether ischemic changes are noted on a stress test. Peripheral branch pulmonary stenosis usually spontaneously resolves and generally should not be treated with catheter or surgical intervention.

In general, the degree of supraaortic obstruction in Williams syndrome patients tends to progress over time, whereas peripheral branch pulmonary stenosis improves over time.



Williams syndrome requires the attention of multiple health care professionals, depending on the specific phenotypic manifestations. Many large tertiary care centers have Williams syndrome clinics that help organize and coordinate the care of patients with Williams syndrome.

For cardiac findings in children with Williams syndrome, early involvement of a pediatric cardiologist and cardiothoracic surgeon is essential.

An anesthesiologist should be consulted prior to administration of anesthetics. Sedation should be administered only by physicians experienced in pediatric procedural sedation.

Geneticists, dentists, ophthalmologists, orthopedists, physical and occupational therapists, and psychologists all contribute to the care of the patient with Williams syndrome. Patients may benefit from music therapy.[92]

Parents of children with Williams syndrome should be offered genetic counseling to review their recurrence risks and options for prenatal diagnosis. If neither parent is affected with Williams syndrome, the risk of having another affected child with Williams syndrome is usually less than 1%. However, recurrences of Williams syndrome have been reported, even with unaffected parents, because of apparent germline mosaicism.[80]

Patients with Williams syndrome are considered to be fertile. If one parent is affected with Williams syndrome, the risk for having an affected child is typically 50% because the deletion behaves in an autosomal dominant manner. When of appropriate age, affected children should receive genetic counseling prior to considering having children of their own.

Women with Williams syndrome who are considering pregnancy or who are pregnant should be referred to a maternal-fetal medicine specialist for close monitoring. In particular, a pregnant woman with Williams syndrome should be monitored for hypertension, hypercalcemia, and cardiovascular and other complications.[81]

Contributor Information and Disclosures

Joanna Lazier, MD Resident Physician, Department of Medical Genetics, University of Calgary Faculty of Medicine, Canada

Joanna Lazier, MD is a member of the following medical societies: Alberta Medical Association, American Society of Human Genetics, Canadian Medical Association, Canadian Association of Interns and Residents, Professional Association of Resident Physicians of Alberta

Disclosure: Nothing to disclose.


Aneal Khan, MD, MSc FRCP(C), FCCMG, Assistant Professor of Medical Genetics and Pediatrics, University of Calgary Faculty of Medicine; Consulting Staff, Departments of Pediatrics and Medical Genetics, Alberta Children's Hospital, Canada

Aneal Khan, MD, MSc is a member of the following medical societies: Canadian Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Ameeta Martin, MD Clinical Associate Professor, Department of Pediatric Cardiology, University of Nebraska College of Medicine

Ameeta Martin, MD is a member of the following medical societies: American College of Cardiology

Disclosure: Nothing to disclose.

Chief Editor

Howard S Weber, MD, FSCAI Professor of Pediatrics, Section of Pediatric Cardiology, Pennsylvania State University College of Medicine; Director of Interventional Pediatric Cardiology, Penn State Hershey Children's Hospital

Howard S Weber, MD, FSCAI is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, Society for Cardiovascular Angiography and Interventions

Disclosure: Received income in an amount equal to or greater than $250 from: St. Jude Medical.

Additional Contributors

Jeffrey Allen Towbin, MD, MSc FAAP, FACC, FAHA, Professor, Departments of Pediatrics (Cardiology), Cardiovascular Sciences, and Molecular and Human Genetics, Baylor College of Medicine; Chief of Pediatric Cardiology, Foundation Chair in Pediatric Cardiac Research, Texas Children's Hospital

Jeffrey Allen Towbin, MD, MSc is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Cardiology, American College of Sports Medicine, American Heart Association, American Medical Association, American Society of Human Genetics, New York Academy of Sciences, Society for Pediatric Research, Texas Medical Association, Texas Pediatric Society, Cardiac Electrophysiology Society

Disclosure: Nothing to disclose.


The authors and editors of Medscape Drugs & Diseases gratefully acknowledge the contributions of previous coauthors Oana Caluseriu, MD, Lennox H Huang, MD, FAAP, and Nathaniel H Robin, MD, to the development and writing of the source article.

  1. Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. 1993 Sep. 5(1):11-6. [Medline].

  2. Lowery MC, Morris CA, Ewart A, et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am J Hum Genet. 1995 Jul. 57(1):49-53. [Medline].

  3. Nickerson E, Greenberg F, Keating MT, et al. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet. 1995 May. 56(5):1156-61. [Medline].

  4. Urban Z, Helms C, Fekete G, et al. 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet. 1996 Oct. 59(4):958-62. [Medline].

  5. Heller R, Rauch A, Luttgen S, et al. Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome. J Med Genet. 2003 Aug. 40(8):e99. [Medline].

  6. Hockenhull EL, Carette MJ, Metcalfe K, et al. A complete physical contig and partial transcript map of the Williams syndrome critical region. Genomics. 1999 Jun 1. 58(2):138-45. [Medline].

  7. Merla G, Brunetti-Pierri N, Micale L, Fusco C. Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Genet. 2010 Jul. 128(1):3-26. [Medline].

  8. Bayés M, Magano LF, Rivera N, Flores R, Pérez Jurado LA. Mutational mechanisms of Williams-Beuren syndrome deletions. Am J Hum Genet. 2003 Jul. 73(1):131-51. [Medline]. [Full Text].

  9. Merla G, Ucla C, Guipponi M, Reymond A. Identification of additional transcripts in the Williams-Beuren syndrome critical region. Hum Genet. 2002 May. 110(5):429-38. [Medline].

  10. Vandeweyer G, Van der Aa N, Reyniers E, Kooy RF. The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome. Am J Hum Genet. 2012 Jun 8. 90(6):1071-8. [Medline]. [Full Text].

  11. Mari A, Amati F, Mingarelli R, et al. Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. Hum Genet. 1995 Oct. 96(4):444-8. [Medline].

  12. Dridi SM, Ghomrasseni S, Bonnet D, et al. Skin elastic fibers in Williams syndrome. Am J Med Genet. 1999 Nov 19. 87(2):134-8. [Medline].

  13. Frangiskakis JM, Ewart AK, Morris CA, et al. LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell. 1996 Jul 12. 86(1):59-69. [Medline].

  14. Tassabehji M, Metcalfe K, Fergusson WD, et al. LIM-kinase deleted in Williams syndrome. Nat Genet. 1996 Jul. 13(3):272-3. [Medline].

  15. Hirota H, Matsuoka R, Chen XN, et al. Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. Genet Med. 2003 Jul-Aug. 5(4):311-21. [Medline].

  16. Euteneuer J, Carvalho CM, Kulkarni S, et al. Molecular and phenotypic characterization of atypical Williams-Beuren syndrome. Clin Genet. 2014 Nov. 86(5):487-91. [Medline].

  17. Fusco C, Micale L, Augello B, et al. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits. Eur J Hum Genet. 2014 Jan. 22(1):64-70. [Medline]. [Full Text].

  18. Letavernier E, Rodenas A, Guerrot D, Haymann JP. Williams-Beuren syndrome hypercalcemia: is TRPC3 a novel mediator in calcium homeostasis?. Pediatrics. 2012 Jun. 129(6):e1626-30. [Medline].

  19. Osborne LR. Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder. Mol Genet Metab. 1999 May. 67(1):1-10. [Medline].

  20. Megarbane H, Florence J, Sass JO, et al. An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism. J Invest Dermatol. 2009 Jul. 129(7):1650-5. [Medline].

  21. Sugitani H, Hirano E, Knutsen RH, et al. Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa. J Biol Chem. 2012 Jun 22. 287(26):22055-67. [Medline]. [Full Text].

  22. Hobart HH, Morris CA, Mervis CB, et al. Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome. Am J Med Genet C Semin Med Genet. 2010 May 15. 154C(2):220-8. [Medline]. [Full Text].

  23. Radford DJ, Pohlner PG. The middle aortic syndrome: an important feature of Williams' syndrome. Cardiol Young. 2000 Nov. 10(6):597-602. [Medline].

  24. Rose C, Wessel A, Pankau R, Partsch CJ, Bursch J. Anomalies of the abdominal aorta in Williams-Beuren syndrome--another cause of arterial hypertension. Eur J Pediatr. 2001 Nov. 160(11):655-8. [Medline].

  25. Ardinger RH Jr, Goertz KK, Mattioli LF. Cerebrovascular stenoses with cerebral infarction in a child with Williams syndrome. Am J Med Genet. 1994 Jul 1. 51(3):200-2. [Medline].

  26. Wessel A, Gravenhorst V, Buchhorn R. Risk of sudden death in the Williams-Beuren syndrome. Am J Med Genet A. 2004 Jun 15. 127(3):234-7. [Medline].

  27. Soper R, Chaloupka JC, Fayad PB, et al. Ischemic stroke and intracranial multifocal cerebral arteriopathy in Williams syndrome. J Pediatr. 1995 Jun. 126(6):945-8. [Medline].

  28. Cherniske EM, Carpenter TO, Klaiman C, et al. Multisystem study of 20 older adults with Williams syndrome. Am J Med Genet A. 2004 Dec 15. 131(3):255-64. [Medline].

  29. Lee WD, Hsu JJ, Huang FC, Chao MC, Chang YL, Huang MH. Ischemic stroke in Williams-Beuren syndrome: a case report. Kaohsiung J Med Sci. 2009 Apr. 25(4):212-6. [Medline].

  30. Broder K, Reinhardt E, Ahern J, et al. Elevated ambulatory blood pressure in 20 subjects with Williams syndrome. Am J Med Genet. 1999 Apr 23. 83(5):356-60. [Medline].

  31. Phomakay V, Gossett JM, Kaplan PB, et al. Ventricular Hypertrophy on Electrocardiogram Correlates with Obstructive Lesion Severity in Williams Syndrome. Congenit Heart Dis. 2014 Jun 25. [Medline].

  32. Bird LM, Billman GF, Lacro RV, et al. Sudden death in Williams syndrome: report of ten cases. J Pediatr. 1996 Dec. 129(6):926-31. [Medline].

  33. Bragg K, Fedel GM, DiProsperis A. Cardiac arrest under anesthesia in a pediatric patient with Williams syndrome: a case report. AANA J. 2005 Aug. 73(4):287-93. [Medline].

  34. Horowitz PE, Akhtar S, Wulff JA, et al. Coronary artery disease and anesthesia-related death in children with Williams syndrome. J Cardiothorac Vasc Anesth. 2002 Dec. 16(6):739-41. [Medline].

  35. Yetkin U, Bal F, Bayata S, Gurbuz A. Severely calcified valvular aortic stenosis firstly diagnosed in monozygotic male twins with suspected Williams-Beuren syndrome. Jpn Heart J. 2004 Sep. 45(5):877-83. [Medline].

  36. Hertzberg J, Nakisbendi L, Needleman HL, Pober B. Williams syndrome--oral presentation of 45 cases. Pediatr Dent. 1994 Jul-Aug. 16(4):262-7. [Medline].

  37. Stagi S, Lapi E, Cecchi C, et al. Williams-beuren syndrome is a genetic disorder associated with impaired glucose tolerance and diabetes in childhood and adolescence: new insights from a longitudinal study. Horm Res Paediatr. 2014. 82(1):38-43. [Medline].

  38. Selicorni A, Fratoni A, Pavesi MA, Bottigelli M, Arnaboldi E, Milani D. Thyroid anomalies in Williams syndrome: investigation of 95 patients. Am J Med Genet A. 2006 May 15. 140(10):1098-101. [Medline].

  39. Axelsson S, Bjornland T, Kjaer I, Heiberg A, Storhaug K. Dental characteristics in Williams syndrome: a clinical and radiographic evaluation. Acta Odontol Scand. 2003 Jun. 61(3):129-36. [Medline].

  40. Partsch CJ, Siebert R, Caliebe A, et al. Sigmoid diverticulitis in patients with Williams-Beuren syndrome: relatively high prevalence and high complication rate in young adults with the syndrome. Am J Med Genet A. 2005 Aug 15. 137(1):52-4. [Medline].

  41. Yau EK, Lo IF, Lam ST. Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study. Hong Kong Med J. 2004 Feb. 10(1):22-7. [Medline].

  42. Amenta S, Sofocleous C, Kolialexi A, et al. Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population. Pediatr Res. 2005 Jun. 57(6):789-95. [Medline].

  43. Sadler LS, Pober BR, Grandinetti A, et al. Differences by sex in cardiovascular disease in Williams syndrome. J Pediatr. 2001 Dec. 139(6):849-53. [Medline].

  44. Bruno E, Rossi N, Thuer O, et al. Cardiovascular findings, and clinical course, in patients with Williams syndrome. Cardiol Young. 2003 Dec. 13(6):532-6. [Medline].

  45. Zaghloul N, Hutcheon RG, Tepperberg JH. Visual diagnosis: monozygotic twins who have congenital heart disease and distinctive facial features. Pediatr Rev. 2002 Oct. 23(10):365-7. [Medline].

  46. Mervis CB, Robinson BF, Bertrand J, et al. The Williams syndrome cognitive profile. Brain Cogn. 2000 Dec. 44(3):604-28. [Medline].

  47. Leyfer O, John AE, Woodruff-Borden J, Mervis CB. Factor structure of the Children's Behavior Questionnaire in children with Williams syndrome. J Autism Dev Disord. 2012 Nov. 42(11):2346-53. [Medline]. [Full Text].

  48. Cowie D, Braddick O, Atkinson J. Visually guided step descent in children with Williams syndrome. Dev Sci. 2012 Jan. 15(1):74-86. [Medline].

  49. Schulman SL, Zderic S, Kaplan P. Increased prevalence of urinary symptoms and voiding dysfunction in Williams syndrome. J Pediatr. 1996 Sep. 129(3):466-9. [Medline].

  50. Kuijpers GM, De Vroede M, Knol HE, Jansen M. Growth hormone treatment in a child with Williams-Beuren syndrome: a case report. Eur J Pediatr. 1999 Jun. 158(6):451-4. [Medline].

  51. Xekouki P, Fryssira H, Maniati-Christidi M, et al. Growth hormone deficiency in a child with Williams-Beuren syndrome. The response to growth hormone therapy. J Pediatr Endocrinol Metab. 2005 Feb. 18(2):205-7. [Medline].

  52. Stagi S, Bindi G, Neri AS, et al. Thyroid function and morphology in patients affected by Williams syndrome. Clin Endocrinol (Oxf). 2005 Oct. 63(4):456-60. [Medline].

  53. Toomey KE. Medical genetics for the practitioner. Pediatr Rev. 1996 May. 17(5):163-74. [Medline].

  54. Porter MA, Coltheart M. Cognitive heterogeneity in Williams syndrome. Dev Neuropsychol. 2005. 27(2):275-306. [Medline].

  55. Tsai SW, Wu SK, Liou YM, Shu SG. Early development in Williams syndrome. Pediatr Int. 2008 Apr. 50(2):221-4. [Medline].

  56. Dixit A, McKee S, Mansour S, et al. 7q11.23 Microduplication: a recognizable phenotype. Clin Genet. 2013 Feb. 83(2):155-61. [Medline].

  57. Mervis CB, Velleman SL. Children with Williams Syndrome: Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention. Perspect Lang Learn Educ. 2011 Oct 1. 18(3):98-107. [Medline]. [Full Text].

  58. Withers S. A new clinical sign in Williams syndrome. Arch Dis Child. 1996 Jul. 75(1):89. [Medline].

  59. Klein-Tasman BP, Mervis CB, Lord C, Phillips KD. Socio-communicative deficits in young children with Williams syndrome: performance on the Autism Diagnostic Observation Schedule. Child Neuropsychol. 2007 Sep. 13(5):444-67. [Medline].

  60. Blomberg S, Rosander M, Andersson G. Fears, hyperacusis and musicality in Williams syndrome. Res Dev Disabil. 2006 Nov-Dec. 27(6):668-80. [Medline].

  61. Gallo FJ, Klein-Tasman BP, Gaffrey MS, Curran P. Expecting the worst: observations of reactivity to sound in young children with Williams syndrome. Res Dev Disabil. 2008 Nov-Dec. 29(6):567-81. [Medline]. [Full Text].

  62. Huang L, Sadler L, O'Riordan MA, Robin NH. Delay in diagnosis of Williams syndrome. Clin Pediatr (Phila). 2002 May. 41(4):257-61. [Medline].

  63. Lopez-Rangel E, Maurice M, McGillivray B, Friedman JM. Williams syndrome in adults. Am J Med Genet. 1992 Dec 1. 44(6):720-9. [Medline].

  64. Einfeld SL, Tonge BJ, Rees VW. Longitudinal course of behavioral and emotional problems in Williams syndrome. Am J Ment Retard. 2001 Jan. 106(1):73-81. [Medline].

  65. Davies M, Udwin O, Howlin P. Adults with Williams syndrome. Preliminary study of social, emotional and behavioural difficulties. Br J Psychiatry. 1998 Mar. 172:273-6. [Medline].

  66. Davies M, Howlin P, Udwin O. Independence and adaptive behavior in adults with Williams syndrome. Am J Med Genet. 1997 May 16. 70(2):188-95. [Medline].

  67. Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL. Natural history of Williams syndrome: physical characteristics. J Pediatr. 1988 Aug. 113(2):318-26. [Medline].

  68. Pankau R, Partsch CJ, Neblung A, et al. Head circumference of children with Williams-Beuren syndrome. Am J Med Genet. 1994 Sep 1. 52(3):285-90. [Medline].

  69. Canargiu F, Erriu M, Piras A, Dibart SN. Modifications of periodontal tissues associated with Williams syndrome. A case report. Minerva Stomatol. 2009 Jul-Aug. 58(7-8):375-81. [Medline].

  70. Carrasco X, Castillo S, Aravena T, Rothhammer P, Aboitiz F. Williams syndrome: pediatric, neurologic, and cognitive development. Pediatr Neurol. 2005 Mar. 32(3):166-72. [Medline].

  71. Pankau R, Partsch CJ, Winter M, Gosch A, Wessel A. Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome. Am J Med Genet. 1996 May 3. 63(1):301-4. [Medline].

  72. Greenberg F, Lewis RA. The Williams syndrome. Spectrum and significance of ocular features. Ophthalmology. 1988 Dec. 95(12):1608-12. [Medline].

  73. Kapp ME, von Noorden GK, Jenkins R. Strabismus in Williams syndrome. Am J Ophthalmol. 1995 Mar. 119(3):355-60. [Medline].

  74. Marler JA, Elfenbein JL, Ryals BM, et al. Sensorineural hearing loss in children and adults with Williams syndrome. Am J Med Genet A. 2005 Nov 1. 138(4):318-27. [Medline].

  75. Dutly F, Schinzel A. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum Mol Genet. 1996 Dec. 5(12):1893-8. [Medline].

  76. Baumer A, Dutly F, Balmer D, et al. High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions. Hum Mol Genet. 1998 May. 7(5):887-94. [Medline].

  77. Robinson WP, Waslynka J, Bernasconi F, et al. Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion. Genomics. 1996 May 15. 34(1):17-23. [Medline].

  78. Osborne LR, Li M, Pober B, et al. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet. 2001 Nov. 29(3):321-5. [Medline].

  79. von Dadelszen P, Chitayat D, Winsor EJ. De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome. Am J Med Genet. 2000 Feb 14. 90(4):270-5. [Medline].

  80. Kara-Mostefa A, Raoul O, Lyonnet S, et al. Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism. Am J Hum Genet. 1999 May. 64(5):1475-8. [Medline].

  81. Mulik VV, Temple KI, Howe DT. Two pregnancies in a woman with Williams syndrome. BJOG. 2004 May. 111(5):511-2. [Medline].

  82. Voit T, Kramer H, Thomas C. Myopathy in Williams-Beuren syndrome. Eur J Pediatr. 1991 May. 150(7):521-6. [Medline].

  83. Sforzini C, Milani D, Fossali E, et al. Renal tract ultrasonography and calcium homeostasis in Williams-Beuren syndrome. Pediatr Nephrol. 2002 Nov. 17(11):899-902. [Medline].

  84. Committee on Genetics. American Academy of Pediatrics: Health care supervision for children with Williams syndrome. Pediatrics. 2001 May. 107(5):1192-204. [Medline].

  85. Cagle AP, Waguespack SG, Buckingham BA, et al. Severe infantile hypercalcemia associated with Williams syndrome successfully treated with intravenously administered pamidronate. Pediatrics. 2004 Oct. 114(4):1091-5. [Medline].

  86. Oliveri B, Mastaglia SR, Mautalen C, et al. Long-term control of hypercalcaemia in an infant with williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate). Acta Paediatr. 2004 Jul. 93(7):1002-3. [Medline].

  87. Mathias RS. Rickets in an infant with Williams syndrome. Pediatr Nephrol. 2000 Jun. 14(6):489-92. [Medline].

  88. Miani C, Passon P, Bracale AM, et al. Treatment of hyperacusis in Williams syndrome with bilateral conductive hearing loss. Eur Arch Otorhinolaryngol. 2001 Sep. 258(7):341-4. [Medline].

  89. Partsch CJ, Japing I, Siebert R, et al. Central precocious puberty in girls with Williams syndrome. J Pediatr. 2002 Sep. 141(3):441-4. [Medline].

  90. Wessel A, Pankau R, Kececioglu D, et al. Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome. Am J Med Genet. 1994 Sep 1. 52(3):297-301. [Medline].

  91. Collins RT 2nd, Kaplan P, Somes GW, Rome JJ. Long-term outcomes of patients with cardiovascular abnormalities and williams syndrome. Am J Cardiol. 2010 Mar 15. 105(6):874-8. [Medline].

  92. Lense MD, Shivers CM, Dykens EM. (A)musicality in Williams syndrome: examining relationships among auditory perception, musical skill, and emotional responsiveness to music. Front Psychol. 2013. 4:525. [Medline]. [Full Text].

Two-dimensional suprasternal echocardiographic image of supravalvular aortic stenosis (SVAS).
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.