Williams-Beuren syndrome: An update and review for the primary physician

Clinical Pediatrics

Volumn 38, Issue 4, 1999, Pages 189-208

  Lashkari, Ashkan ^a   Smith, Andrew K ^a   Graham Jr , John M ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ELASTIN;

ARTICLE; BEHAVIOR DISORDER; CHROMOSOME DELETION; COGNITIVE DEFECT; CONGENITAL HEART MALFORMATION; CONGENITAL HYPOTHYROIDISM; EYE DISEASE; FACIES; GASTROINTESTINAL DISEASE; GROWTH RETARDATION; HUMAN; HYPERCALCEMIA; LANGUAGE DISABILITY; LEARNING DISORDER; MENTAL DEFICIENCY; MUSCULOSKELETAL DISEASE; SUPPORT GROUP; UROGENITAL TRACT MALFORMATION; WILLIAMS BEUREN SYNDROME;

EID: 0032916681     PISSN: 00099228     EISSN: None     Source Type: Journal    
DOI: 10.1177/000992289903800401     Document Type: Article

References (74)

1. Williams JCP, Barratt-Boyes BG, Love JB. Supravalvular aortic stenosis. Circulation. 1961;21:1311-1318.
2. Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and certain facial appearance. Circulation. 1962;26:1235-1240.
3. Ewart AK, Morris CA, Atkinson DL, et al. Hemizygosity at the elastin locus in an developmental disorder, Williams syndrome. Nat Genet. 1993;5:11-16.
4. Lowery MC, Morris CA, Ewart AK, et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am J Hum Genet. 1995;57:49-53.
5. Garcia RE, Friedman WF, Kaback MM, et al. Idiopathic hypercalcemia and supravalvular aortic stenosis. N Engl J Med. 1964;271:117-120.
6. Jue KL, Noren GR, Anderson RC. The syndrome of idiopathic hypercalcemia of infancy with associated congenital heart disease. J Pediatr. 1965;67:1130-1149.
7. Bonham-Carter RE, Sutcliffe J. A syndrome of multiple of arterial stenosis in association with the severe form of idiopathic hypercalcemia. Arch Dis Child. 1964;39:418-419.
8. Von Armin G, Engel P. Mental retardation related to hypercalcemia. Dev Med Child Neurol. 1964;6:366-377.
9. Jones KL, Smith DW. The Williams elfin facies syndrome. J Pediatr. 1975;86:718-723.
10. Jones KL. Williams syndrome: an historical perspective of its evolution, natural history, and etiology. Am J Med Genet. 1990;6:89-96.
11. Coleman EN. Infantile hypercalcemia and cardiovascular lesions. Arch Dis Child. 1965;40:535-540.
12. Friedman WF, Roberts WC. Vitamin D and the supravalvular aortic stenosis syndrome. The transplacental effects of vitamin D on the aorta of the rabbit. Circulation. 1966;34:77-86.
13. Chan GM, Buchino JJ, Melhorn D, et al. The effect of vitamin D on pregnant rabbits and their offspring. Pediatr Res. 1979;13:121-126.
14. Martin NDJ, Snodgrass GJAI, Cohen RD, et al. Vitamin D metabolism in idiopathic infantile hypercalcemia. Arch Dis Child. 1985;60:1140-1143.
15. Culler FL, Jones KL, Defros LJ. Impaired calcitonin secretion in patients with Williams syndrome. J Pediatr. 1985;107:720-723.
16. Forbes GB, Bryson MF, Manning J, et al. Impaired calcium homeostasis in the infantile hypercalcemic syndrome. Acta Paediatr Scand. 1972; 61:305-309.
17. Hutchins GM, Mirvis SE, Mendelsohn G, et al. Supravalvular aortic stenosis with parafollicular cell (C-cell) hyperplasia. Am J Med Genet. 1978;64:967-973.
18. Morris CA, Loker J, Ensing G, Stock AD. Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene. Am J Med Genet. 1993; 46:737-744.
19. Osborne LR, Martindale D, Scherer SW, et al. Identification of genes from a 500kb region at 7q11.23. that is commonly deleted in Williams syndrome patients. Genomics. 1996;36:328-336.
20. Osborne LR, Soder S, Shi XM, et al. Letter to the editor: hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome. Am J Hum Genet. 1997;61:449-452.
21. Wang YK, Samos CH, Peoples R, et al. A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23. Hum Mol Genet. 1997;6:465-572.
22. Perez Jurado LA, Li X, Francke U. The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion associated with the Williams syndrome. Cytogenet Cell Genet. 1995;70:246-249.
23. Greenberg F. Williams syndrome professional symposium. Am J Med Genet. 1990;6(suppl):85-88.
24. Morris CA, Thomas IT, Greenberg F. Williams syndrome: autosomal dominant inheritance. Am J Med Genet. 1993;47:478-481.
25. Nickerson E, Greenberg F, Keating MT, et al. Deletions of the elastin gene at 7q11.22 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet. 1995;56:1156-1161.
26. Urban Z, Helms C, Fekete G, et al. (Letter) 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet. 1996;59:958-962.
27. Li DY, Toland AE, Boak BB, et al. Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. Hum Mol Genet. 1997;6:1021-1028.
28. Morris CA, Demsey SA, Leonard CO, et al. Natural history of Williams syndrome: physical characteristics. J Pediatr. 1988;113:318-326.
29. Tsao CY, Westman JA. Infantile spasms in the two children with Williams syndrome. Am J Med Genet. 1997;71:54-56.
30. Bird LM, Billman GF, Lacro RV, et al. Sudden death in Williams syndrome: report of ten cases. J Pediatr. 1996;129:926-931.
31. Wessel A, Pankau R, Berdau W, et al. Aortic stiffness with the Williams-Beuren syndrome. Pediatr Cardiol. 1997;18:244.
32. Actis-Dato GM, La Torre M, Caimmi Ph, et al. Williams-Beuren syndrome. Long-term results of surgical treatment of six patients. J Cardiovasc Surg. 1997;38:125-129.
33. 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 Pediatr. 1994;52:297-301.
34. Schurger D, Bartel T, Muller S, et al. Multiplane transesophageal echocardiography is the only definitive ultrasound approach in adult supravalvular aortic stenosis. Int J Cardiol. 1996;305-309.
35. Bockoven JR, Kaplan P, Namey T, Gleasal M. Williams syndrome: the first decade is crucial for cardiovascular monitoring. Proc Greenwood Genet Center. 1997;16:134-135.
36. Sadler LS, Gingell R, Martin DJ. Carotid ultrasound examination in the Williams syndrome. Proc Greenwood Genet Center. 1997;16:136-137.
37. Preus M. The Williams syndrome: objective definition and diagnosis. Clin Genet. 1984;25:422-428.
38. Oncag A, Gunbay S, Parlar A. Williams syndrome. J Clin Pediatr Dentistry. 1995;19:301-304.
39. Mass E, Belostoky L. Craniofacial morphology of children with Williams syndrome. Cleft-Palate Craniofac J. 1993;30:343-349.
40. Klein AJ, Armstrong BL, Greer MK, et al. Hyperacusis and otitis media in individuals with Williams syndrome. J Speech Hear Disorders. 1990;55:339-344.
41. Van Borset J, Curfs LMG, Fryns JP. Hyperacusis in Williams syndrome: a sample survey study. Genet Couns. 1997;8:121-126.
42. Greenberg F, Lewis RA. Williams syndrome: spectrum and significance of ocular features. Ophthalmology. 1988; 95:1608-1612.
43. Winter M, Pankau R, Amm M, et al. The spectrum of ocular features in the Williams-Beuren syndrome. Clin Genet. 1996;49:28-31.
44. Kapp ME, von Noorden GK, Jenkins R. Strabismus in Williams syndrome. Am J Ophthalmol. 1994;119:355-360.
45. Pober BR, Lacro RV, Rice C, et al. Renal findings in 40 individuals with Williams syndrome. Am J Med Genet. 1993;46:271-274.
46. Pankau R, Partch CJ, Winter M, et al. Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome. Am J Med Genet. 1996;63:301-304.
47. Babbit BP, Dobbs J, Boedecker RA. Multiple bladder diverticula in Williams ëelfin-faciesí syndrome. Peadiatr Radiol. 1979;8:29-31.
48. Morris CA, Leonard CO, Dilts C. Adults with Williams syndrome. Am J Med Genet. 1990;6(suppl):102-107.
49. Nicholson WR, Hockey KA. Williams syndrome: a clinical study of children and adults. J Paediatr Child Health. 1993;29:468-472.
50. Pankau R, Partsch CJ, Neblung A, et al. Natural history of body mass index in Williams-Beuren syndrome. Am J Med Genet. 1994;5:51-54.
51. Pankau R, Partsch CJ, Gosch A, et al. Statural growth in Williams-Beuren syndrome. Eur J Pediatr. 1992;151:751-755.
52. Martin NDT, Snodgrass GJAJ, Cohen RD. Idiopathic infantile hypercalcemia - a continuing enigma. Arch Disabled Child 1984;59:605-613.
53. Partsch CJ, Pankau R, Blum WF, et al. Hormonal regulation in children and adults with Williams-Beuren syndrome. Am J Med Genet. 1994;51:251-257.
54. Pankau R, Partsch CJ, Neblung A, et al. Head circumference of children with Williams-Beuren syndrome. Am J Med Genet. 1994;52:285-290.
55. Greenberg F, Lewis RA. The Williams syndrome. Spectrum and significance of ocular features. Ophthalmology. 1988;12:1608-1612.
56. Pober BR, Sadler LS, Merrill E, et al. Early puberty in Williams syndrome. (In print.)
57. Morris CA, Carey JC. Three diagnostic signs in Williams syndrome. Am J Med Genet. 1990;6:100-101.
58. Chapman CA, du Plessis A, Pober BR. Neurologic findings in children and adults with Williams syndrome. J Child Neurol. 1996;11:63-65.
59. Gillberg C, Rasmussen P. Brief report: four case histories and a literature review of Williams syndrome and autistic behavior. J Autism Dev Disord. 1994;3:381-393.
60. Udwin O, Yule W, Martin N. Cognitive abilities and behavioral characteristics of children with idiopathic infantile hypercalcemia. J Child Psychol Psychiatry. 1987;28:297-309.
61. Arnold R, Yule W, Martin N. The psychological characteristics of infantile hypercalcemia: a preliminary investigation. Dev Med Child Neurol. 1985;27:49-59.
62. Bellugi U, Marks S, Birhle AM, et al. Dissociation between language and cognitive function in Williams syndrome. In: Bishop D, Mogford K, eds. Language Development in Exceptional Circumstances. London: Churchill Livingstone; 1988.
63. Bellugi U, Wang P, Jernigan TL. Williams syndrome: an unusual neuropsychological profile. In: Broman S, Graffman J, eds. Atypical Cognitive Deficits in Developmental Disorders: Implications for Brain Function. Hillsdale, NJ: Erlbaum, 23-56.
64. Volterra V, Capirci O, Pezzini G, et al. Linguistic abilities in Italian children with Williams syndrome. Cortex. 1996;32:663-677.
65. Galaburda AM, Wang PP, Bellugi U, Rossen M. Cytoarchitectonic anomalies in a genetically based disorder: Williams syndrome. Neuroreport. 1994;5:753-757.
66. Gosch A, Pankau R. Social-emotional and behavioral adjustment in children with Williams-Beuren syndrome. Am J Med Genet. 1994;53:335-339.
67. Power TJ, Blum NJ, Jones SM, et al. Brief report: response to methylphenidate in two children with Williams syndrome. J Autism Dev Disord. 1997;27:79-87.
68. Bawden HN, MacDonald GW, Shea S. Treatment of children with Williams syndrome with methylphenidate. J Child Neurol. 1997;12:248-252.
69. Gosch A, Pankau R. Personality characteristics and behavior problems in individuals of different ages with Williams syndrome. Dev Med Child Neurol. 1997;39:527-533.
70. Davies M, Howlin P, Udwin O. Independence and adaptive behavior in adults with Williams syndrome. Am J Med Genet. 1997;70:188-195.
71. Lopez-Rangel E, Maurice M, McGillivray B, et al. Williams syndrome in adults. Am J Med Genet. 1992;44:720-729.
72. Plissart L, Borghgraef M, Volcke P, et al. Adults with Williams-Beuren syndrome: evaluation of the medical, psychological, and behavioral aspects. Clin Genet. 1994;46:271-274.
73. Lowery MC, Morris CA, Ewart AK, et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am J Hum Genet. 1995;57:49-53.
74. Morris CA, Lu X, Greenberg F. Syndromes identified in patients with a previous diagnosis of Williams syndrome who do not have elastin deletion. Proc Greenwood Genet Center. 1998;17:116-117.