Williams Syndrome Medication
- Author: Aneal Khan, MD, MSc, FRCP(C), FCCMG; Chief Editor: Stuart Berger, MD more...
Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. Sep 1993;5(1):11-6. [Medline].
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. Jul 1995;57(1):49-53. [Medline].
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. May 1995;56(5):1156-61. [Medline].
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. Oct 1996;59(4):958-62. [Medline].
Hockenhull EL, Carette MJ, Metcalfe K, et al. A complete physical contig and partial transcript map of the Williams syndrome critical region. Genomics. Jun 1 1999;58(2):138-45. [Medline].
Heller R, Rauch A, Luttgen S, et al. Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome. J Med Genet. Aug 2003;40(8):e99. [Medline].
Merla G, Brunetti-Pierri N, Micale L, Fusco C. Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Genet. Jul 2010;128(1):3-26. [Medline].
Merla G, Ucla C, Guipponi M, Reymond A. Identification of additional transcripts in the Williams-Beuren syndrome critical region. Hum Genet. May 2002;110(5):429-38. [Medline].
Mari A, Amati F, Mingarelli R, et al. Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. Hum Genet. Oct 1995;96(4):444-8. [Medline].
Dridi SM, Ghomrasseni S, Bonnet D, et al. Skin elastic fibers in Williams syndrome. Am J Med Genet. Nov 19 1999;87(2):134-8. [Medline].
Frangiskakis JM, Ewart AK, Morris CA, et al. LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell. Jul 12 1996;86(1):59-69. [Medline].
Tassabehji M, Metcalfe K, Fergusson WD, et al. LIM-kinase deleted in Williams syndrome. Nat Genet. Jul 1996;13(3):272-3. [Medline].
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. Jul-Aug 2003;5(4):311-21. [Medline].
Osborne LR. Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder. Mol Genet Metab. May 1999;67(1):1-10. [Medline].
Radford DJ, Pohlner PG. The middle aortic syndrome: an important feature of Williams' syndrome. Cardiol Young. Nov 2000;10(6):597-602. [Medline].
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. Nov 2001;160(11):655-8. [Medline].
Ardinger RH Jr, Goertz KK, Mattioli LF. Cerebrovascular stenoses with cerebral infarction in a child with Williams syndrome. Am J Med Genet. Jul 1 1994;51(3):200-2. [Medline].
Wessel A, Gravenhorst V, Buchhorn R. Risk of sudden death in the Williams-Beuren syndrome. Am J Med Genet A. Jun 15 2004;127(3):234-7. [Medline].
Soper R, Chaloupka JC, Fayad PB, et al. Ischemic stroke and intracranial multifocal cerebral arteriopathy in Williams syndrome. J Pediatr. Jun 1995;126(6):945-8. [Medline].
Cherniske EM, Carpenter TO, Klaiman C, et al. Multisystem study of 20 older adults with Williams syndrome. Am J Med Genet A. Dec 15 2004;131(3):255-64. [Medline].
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. Apr 2009;25(4):212-6. [Medline].
Broder K, Reinhardt E, Ahern J, et al. Elevated ambulatory blood pressure in 20 subjects with Williams syndrome. Am J Med Genet. Apr 23 1999;83(5):356-60. [Medline].
Bird LM, Billman GF, Lacro RV, et al. Sudden death in Williams syndrome: report of ten cases. J Pediatr. Dec 1996;129(6):926-31. [Medline].
Bragg K, Fedel GM, DiProsperis A. Cardiac arrest under anesthesia in a pediatric patient with Williams syndrome: a case report. AANA J. Aug 2005;73(4):287-93. [Medline].
Horowitz PE, Akhtar S, Wulff JA, et al. Coronary artery disease and anesthesia-related death in children with Williams syndrome. J Cardiothorac Vasc Anesth. Dec 2002;16(6):739-41. [Medline].
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. Sep 2004;45(5):877-83. [Medline].
Hertzberg J, Nakisbendi L, Needleman HL, Pober B. Williams syndrome--oral presentation of 45 cases. Pediatr Dent. Jul-Aug 1994;16(4):262-7. [Medline].
Axelsson S, Bjornland T, Kjaer I, Heiberg A, Storhaug K. Dental characteristics in Williams syndrome: a clinical and radiographic evaluation. Acta Odontol Scand. Jun 2003;61(3):129-36. [Medline].
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. Aug 15 2005;137(1):52-4. [Medline].
Yau EK, Lo IF, Lam ST. Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study. Hong Kong Med J. Feb 2004;10(1):22-7. [Medline].
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. Jun 2005;57(6):789-95. [Medline].
Sadler LS, Pober BR, Grandinetti A, et al. Differences by sex in cardiovascular disease in Williams syndrome. J Pediatr. Dec 2001;139(6):849-53. [Medline].
Bruno E, Rossi N, Thuer O, et al. Cardiovascular findings, and clinical course, in patients with Williams syndrome. Cardiol Young. Dec 2003;13(6):532-6. [Medline].
Zaghloul N, Hutcheon RG, Tepperberg JH. Visual diagnosis: monozygotic twins who have congenital heart disease and distinctive facial features. Pediatr Rev. Oct 2002;23(10):365-7. [Medline].
Mervis CB, Robinson BF, Bertrand J, et al. The Williams syndrome cognitive profile. Brain Cogn. Dec 2000;44(3):604-28. [Medline].
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. Feb 28 2012;[Medline].
Cowie D, Braddick O, Atkinson J. Visually guided step descent in children with Williams syndrome. Dev Sci. Jan 2012;15(1):74-86. [Medline].
Schulman SL, Zderic S, Kaplan P. Increased prevalence of urinary symptoms and voiding dysfunction in Williams syndrome. J Pediatr. Sep 1996;129(3):466-9. [Medline].
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. Jun 1999;158(6):451-4. [Medline].
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. Feb 2005;18(2):205-7. [Medline].
Stagi S, Bindi G, Neri AS, et al. Thyroid function and morphology in patients affected by Williams syndrome. Clin Endocrinol (Oxf). Oct 2005;63(4):456-60. [Medline].
Toomey KE. Medical genetics for the practitioner. Pediatr Rev. May 1996;17(5):163-74. [Medline].
Porter MA, Coltheart M. Cognitive heterogeneity in Williams syndrome. Dev Neuropsychol. 2005;27(2):275-306. [Medline].
Tsai SW, Wu SK, Liou YM, Shu SG. Early development in Williams syndrome. Pediatr Int. Apr 2008;50(2):221-4. [Medline].
Withers S. A new clinical sign in Williams syndrome. Arch Dis Child. Jul 1996;75(1):89. [Medline].
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. Sep 2007;13(5):444-67. [Medline].
Blomberg S, Rosander M, Andersson G. Fears, hyperacusis and musicality in Williams syndrome. Res Dev Disabil. Oct 31 2005;[Medline].
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. Nov 16 2007;[Medline].
Huang L, Sadler L, O'Riordan MA, Robin NH. Delay in diagnosis of Williams syndrome. Clin Pediatr (Phila). May 2002;41(4):257-61. [Medline].
Lopez-Rangel E, Maurice M, McGillivray B, Friedman JM. Williams syndrome in adults. Am J Med Genet. Dec 1 1992;44(6):720-9. [Medline].
Einfeld SL, Tonge BJ, Rees VW. Longitudinal course of behavioral and emotional problems in Williams syndrome. Am J Ment Retard. Jan 2001;106(1):73-81. [Medline].
Davies M, Udwin O, Howlin P. Adults with Williams syndrome. Preliminary study of social, emotional and behavioural difficulties. Br J Psychiatry. Mar 1998;172:273-6. [Medline].
Davies M, Howlin P, Udwin O. Independence and adaptive behavior in adults with Williams syndrome. Am J Med Genet. May 16 1997;70(2):188-95. [Medline].
Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL. Natural history of Williams syndrome: physical characteristics. J Pediatr. Aug 1988;113(2):318-26. [Medline].
Pankau R, Partsch CJ, Neblung A, et al. Head circumference of children with Williams-Beuren syndrome. Am J Med Genet. Sep 1 1994;52(3):285-90. [Medline].
Canargiu F, Erriu M, Piras A, Dibart SN. Modifications of periodontal tissues associated with Williams syndrome. A case report. Minerva Stomatol. Jul-Aug 2009;58(7-8):375-81. [Medline].
Carrasco X, Castillo S, Aravena T, Rothhammer P, Aboitiz F. Williams syndrome: pediatric, neurologic, and cognitive development. Pediatr Neurol. Mar 2005;32(3):166-72. [Medline].
Pankau R, Partsch CJ, Winter M, Gosch A, Wessel A. Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome. Am J Med Genet. May 3 1996;63(1):301-4. [Medline].
Greenberg F, Lewis RA. The Williams syndrome. Spectrum and significance of ocular features. Ophthalmology. Dec 1988;95(12):1608-12. [Medline].
Kapp ME, von Noorden GK, Jenkins R. Strabismus in Williams syndrome. Am J Ophthalmol. Mar 1995;119(3):355-60. [Medline].
Marler JA, Elfenbein JL, Ryals BM, et al. Sensorineural hearing loss in children and adults with Williams syndrome. Am J Med Genet A. Nov 1 2005;138(4):318-27. [Medline].
Dutly F, Schinzel A. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum Mol Genet. Dec 1996;5(12):1893-8. [Medline].
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. May 1998;7(5):887-94. [Medline].
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. May 15 1996;34(1):17-23. [Medline].
Osborne LR, Li M, Pober B, et al. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet. Nov 2001;29(3):321-5. [Medline].
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. Feb 14 2000;90(4):270-5. [Medline].
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. May 1999;64(5):1475-8. [Medline].
Mulik VV, Temple KI, Howe DT. Two pregnancies in a woman with Williams syndrome. BJOG. May 2004;111(5):511-2. [Medline].
Voit T, Kramer H, Thomas C. Myopathy in Williams-Beuren syndrome. Eur J Pediatr. May 1991;150(7):521-6. [Medline].
Sforzini C, Milani D, Fossali E, et al. Renal tract ultrasonography and calcium homeostasis in Williams-Beuren syndrome. Pediatr Nephrol. Nov 2002;17(11):899-902. [Medline].
[Guideline] American Academy of Pediatrics. Health care supervision for children with Williams syndrome. Pediatrics. May 2001;107(5):1192-204. [Medline].
Cagle AP, Waguespack SG, Buckingham BA, et al. Severe infantile hypercalcemia associated with Williams syndrome successfully treated with intravenously administered pamidronate. Pediatrics. Oct 2004;114(4):1091-5. [Medline].
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. Jul 2004;93(7):1002-3. [Medline].
Mathias RS. Rickets in an infant with Williams syndrome. Pediatr Nephrol. Jun 2000;14(6):489-92. [Medline].
Miani C, Passon P, Bracale AM, et al. Treatment of hyperacusis in Williams syndrome with bilateral conductive hearing loss. Eur Arch Otorhinolaryngol. Sep 2001;258(7):341-4. [Medline].
Partsch CJ, Japing I, Siebert R, et al. Central precocious puberty in girls with Williams syndrome. J Pediatr. Sep 2002;141(3):441-4. [Medline].
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. Sep 1 1994;52(3):297-301. [Medline].
Annaz D, Van Herwegen J, Thomas M, et al. Comprehension of metaphor and metonymy in children with Williams syndrome. Int J Lang Commun Disord. Nov-Dec 2009;44(6):962-78. [Medline].
Chodirker BN, Greenberg CR, Giddins NG, et al. Low MSAFP levels and Williams syndrome. Am J Med Genet. Nov 12 1997;72(4):448-50. [Medline].
Committee on Genetics. American Academy of Pediatrics: Health care supervision for children with Williams syndrome. Pediatrics. May 2001;107(5):1192-204. [Medline].
Eronen M, Peippo M, Hiippala A, et al. Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet. Aug 2002;39(8):554-8. [Medline].
Greer MK, Brown FR 3rd, Pai GS, et al. Cognitive, adaptive, and behavioral characteristics of Williams syndrome. Am J Med Genet. Sep 19 1997;74(5):521-5. [Medline].
Mack G, Silberbach M. Aortic andpulmonary stenosis. Pediatr Rev. Mar 2000;21(3):79-85. [Medline].
Morris CA, Mervis CB, Hobart HH, et al. GTF2I hemizygosity implicated in mental retardation in Williams syndrome:Genotype-phenotype analysis of five families with deletions in theWilliams syndrome region. Am J Med Genet. Nov 15 2003;123A(1):45-59. [Medline].
Partsch CJ, Dreyer G, Gosch A, et al. Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome. J Pediatr. Jan 1999;134(1):82-9. [Medline].
Perez Jurado LA, Peoples R, Kaplan P, et al. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am J Hum Genet. Oct 1996;59(4):781-92. [Medline].
Rae C, Karmiloff-Smith A, Lee MA, et al. Brain biochemistry in Williams syndrome: evidence for a role of the cerebellum in cognition?. Neurology. Jul 1998;51(1):33-40. [Medline].
Sadler LS, Olitsky SE, Reynolds JD. Reduced stereoacuity in Williams syndrome. Am J Med Genet. Dec 18 1996;66(3):287-8. [Medline].
Spadoni GL, Colloridi V, Finocchi G, et al. Williams syndrome and growth hormone deficiency. J Pediatr. Apr 1983;102(4):640. [Medline].
van Hagen JM, Eussen HJ, van Schooten R, van Der Geest JN, Lagers-van Haselen GC, Wouters CH, et al. Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification. Genet Test. Fall 2007;11(3):321-7. [Medline].

