Abstract
References
- 1. Ewart AK, Morris CA, Atkinson D, et al: Hemizygosity at the elastin locus in a developmental disorder, Williams Syndrome. Nat Genet 1993;5:11-16.
- 2. Williams JC, Barrat-Boyes BG, Lowe JG. Supravalvular aortic stenosis. Circulation 1961;24:1311-8.
- 3. Beuren AJ, Schulze C, Eberle P, Harmjanz D, Apitz J. The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation, and similar facial appearance. Am J Cardiol 1964; 13:471-82.
- 4. Beuren AJ. Supravalvular aortic stenosis: a complex syndrome with and without mental retardation. Birth defects 1972,8(5):45-56.
- 5. Jones KL, Smith DW. The Williams elfin facies syndrome. J Pediatr 1975;86;718-23.
- 6. VonArnim G, Engel P. Mental retardition related to hypercalcemia. Dev Med Child Neurol 1964;6:366-77.
- 7. Pagon RA, Bennett FC, LaVeck B, Stewart KB, Johnson J. Williams syndrome: features in late childhood and adolescence. Pediatrics 1987;180:85-91.
- 8. Beuren, Alois J., J. Apitz, and D. Harmjanz. "Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance." circulation 26.6 (1962): 1235-1240.
- 9. EISENBERG, ROBERT, et al. "Familial supravalvular aortic stenosis." American Journal of Diseases of Children 108.4 (1964): 341-347.
- 10. Grimm, T., and H. Wesselhoeft. "The genetic aspects of Williams-Beuren syndrome and the isolated form of the supravalvular aortic stenosis. Investigation of 128 families (author's transl)." Zeitschrift fur Kardiologie 69.3 (1980): 168-172.
- 11. Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL. Natural history of Williams syndrome: physical characteristics. J Pediatr 1988;113:318-26.
- 12. Udwin O, Yule W. A cognitive and behavioral phenotype in Williams syndrome. J Clin Exp Neuropsychol 1991;13:232-44.
- 13. Strømme, Petter, Per G. Bjømstad, and Kjersti Ramstad. "Prevalence estimation of Williams syndrome." Journal of child neurology 17.4 (2002): 269-271.
- 14. Smith DW. Recognizable patterns of human malformation. 3rd ed. Philadelphia: Saunders, 1982:100-1.
- 15. Hertzberg J, Nakisbendi L, Needleman HL, Pober B. Williams syndrome: oral presentation of 45 cases. Pediatr Dent 1994;16:262-7.
- 16. Fearne JM, Collins MA, Brook AH, Snodgrass G, Boyde A, Jones S. Review of Williams syndrome and the dental findings. Int Dent J 1996;46 Suppl 2:429.
- 17. Russel BG, Kjaer I. Tooth agenesis in Down syndrome. Am J Med Genet 1995; 55466-71
- 18. Chavetz-Lomeli ME, Mansilla Lory J, Pompa JA, Kjaer I. The human mandibular canal arises from three separate canals innervating different tooth groups. J Dent Res 1996;75:1570-4.
- 19. Dupont B, Dupont A, Bliddal J, Holst E, Melchior JC, Ottesen OE. Idiopathic hypercalcemia of infancy. The elfin face syndrome. Dan Medd Bull 1970; 17:33-46.
- 20. Morris CA, Leonard CO, Dilts C, Demsey SA. Adults with Williams syndrome. Am J Med Genet 1990;6 Suppl:102-7.
- 21. Hertzberg J, Nakisbendi L, Needleman HL, Pober B. Williams syndrome: oral presentation of 45 cases. Pediatr Dent 1994;16:262-7.
- 22. Copperman IJ, Low S. Supravalvular aortic stenosis syndrome with stenosis of all aortic arch branches. Thorax 1975;30:481-4.
- 23. Rosenthal R, Doyle JT. Congenital aortic stenosis. NY State J Med 1965;65:2793-6.
- 24. Preus, M. "The Williams syndrome: objective definition and diagnosis." Clinical Genetics 25.5 (1984): 422-428.
- 25. Rosenthal R, Doyle JT. Congenital aortic stenosis. NY State J Med 1965;65:2793-6.
- 26. Folger GM Jr. Further observations on the syndrome of idiopathic infantile hypercalcemia associated with supravalvular aortic stenosis. Am Heart J 1977;93;455-62.
- 27. Klein, Alan J., et al. "Hyperacusis and otitis media in individuals with Williams syndrome." Journal of Speech and Hearing Disorders 55.2 (1990): 339-344.
- 28. Levitin, Daniel J., et al. "Aversion, awareness, and attraction: investigating claims of hyperacusis in the Williams syndrome phenotype." Journal of child psychology and psychiatry 46.5 (2005): 514-523.
- 29. Gosch, Angela, Gabriele Städing, and Rainer Pankau. "Linguistic abilities in children with Williams‐Beuren syndrome." American Journal of Medical Genetics 52.3 (1994): 291-296.
- 30. Nordgarden H, Jensen JL, Storhaug K. Oligodontia is associated with extra-oral ectodermal symptoms and low whole salivary flow rates. Oral Dis 2001;7:226-32
Abstract
Williams syndrome is a rare
neurodevelopmental disorder caused by the spontaneous deletion of genetic material from
the region q11.23 of one member of the pair of chromosome 7, so that the person is hemizygous for those genes. Syndrome is a
rarely genetic multisystem disorder that occurs equally in all ethnic groups
and both sexes. Williams
syndrome is a developmental disorder that
affects many parts of the body. This condition is characterized by mild to
moderate intellectual disability or learning problems, unique personality
characteristics, distinctive facial features, and heart and blood vessel
(cardiovascular) problems. The
diagnosis of this syndrome is based on recognition of the characteristic
pattern of dysmorphic facial and physical features. The diagnosis is typically suspected based on symptoms
and confirmed by genetic testing. Treatment
includes special
education programs and various types of therapy. Surgery may be done to
correct heart problems. Dietary changes or medications may be required for high
blood calcium. Life expectancy is less than that of the
general population, mostly due to the increased rates of heart disease. This case report
presents the story of 10-year-old girl who suffers from Williams syndrome.
Cardiac murmur, mental retardation, severe malocclusion problems, wide mouth,
diestama, full lip, periorbital fulness, epicanthal fold, stellate iris
pattern, short stature, weaknesses in retional/conceptual language and short
term memory observed in this patient. In this study, patient’s salivary glands
and deciduous anterior tooth were investigated by detailed diagnostic methods
(USG, micro-CT). The overall purpose of this case was to diagnose dental
manifestations and evaluate physical and clinical characteristics of present
case with Williams Syndrome.
References
- 1. Ewart AK, Morris CA, Atkinson D, et al: Hemizygosity at the elastin locus in a developmental disorder, Williams Syndrome. Nat Genet 1993;5:11-16.
- 2. Williams JC, Barrat-Boyes BG, Lowe JG. Supravalvular aortic stenosis. Circulation 1961;24:1311-8.
- 3. Beuren AJ, Schulze C, Eberle P, Harmjanz D, Apitz J. The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation, and similar facial appearance. Am J Cardiol 1964; 13:471-82.
- 4. Beuren AJ. Supravalvular aortic stenosis: a complex syndrome with and without mental retardation. Birth defects 1972,8(5):45-56.
- 5. Jones KL, Smith DW. The Williams elfin facies syndrome. J Pediatr 1975;86;718-23.
- 6. VonArnim G, Engel P. Mental retardition related to hypercalcemia. Dev Med Child Neurol 1964;6:366-77.
- 7. Pagon RA, Bennett FC, LaVeck B, Stewart KB, Johnson J. Williams syndrome: features in late childhood and adolescence. Pediatrics 1987;180:85-91.
- 8. Beuren, Alois J., J. Apitz, and D. Harmjanz. "Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance." circulation 26.6 (1962): 1235-1240.
- 9. EISENBERG, ROBERT, et al. "Familial supravalvular aortic stenosis." American Journal of Diseases of Children 108.4 (1964): 341-347.
- 10. Grimm, T., and H. Wesselhoeft. "The genetic aspects of Williams-Beuren syndrome and the isolated form of the supravalvular aortic stenosis. Investigation of 128 families (author's transl)." Zeitschrift fur Kardiologie 69.3 (1980): 168-172.
- 11. Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL. Natural history of Williams syndrome: physical characteristics. J Pediatr 1988;113:318-26.
- 12. Udwin O, Yule W. A cognitive and behavioral phenotype in Williams syndrome. J Clin Exp Neuropsychol 1991;13:232-44.
- 13. Strømme, Petter, Per G. Bjømstad, and Kjersti Ramstad. "Prevalence estimation of Williams syndrome." Journal of child neurology 17.4 (2002): 269-271.
- 14. Smith DW. Recognizable patterns of human malformation. 3rd ed. Philadelphia: Saunders, 1982:100-1.
- 15. Hertzberg J, Nakisbendi L, Needleman HL, Pober B. Williams syndrome: oral presentation of 45 cases. Pediatr Dent 1994;16:262-7.
- 16. Fearne JM, Collins MA, Brook AH, Snodgrass G, Boyde A, Jones S. Review of Williams syndrome and the dental findings. Int Dent J 1996;46 Suppl 2:429.
- 17. Russel BG, Kjaer I. Tooth agenesis in Down syndrome. Am J Med Genet 1995; 55466-71
- 18. Chavetz-Lomeli ME, Mansilla Lory J, Pompa JA, Kjaer I. The human mandibular canal arises from three separate canals innervating different tooth groups. J Dent Res 1996;75:1570-4.
- 19. Dupont B, Dupont A, Bliddal J, Holst E, Melchior JC, Ottesen OE. Idiopathic hypercalcemia of infancy. The elfin face syndrome. Dan Medd Bull 1970; 17:33-46.
- 20. Morris CA, Leonard CO, Dilts C, Demsey SA. Adults with Williams syndrome. Am J Med Genet 1990;6 Suppl:102-7.
- 21. Hertzberg J, Nakisbendi L, Needleman HL, Pober B. Williams syndrome: oral presentation of 45 cases. Pediatr Dent 1994;16:262-7.
- 22. Copperman IJ, Low S. Supravalvular aortic stenosis syndrome with stenosis of all aortic arch branches. Thorax 1975;30:481-4.
- 23. Rosenthal R, Doyle JT. Congenital aortic stenosis. NY State J Med 1965;65:2793-6.
- 24. Preus, M. "The Williams syndrome: objective definition and diagnosis." Clinical Genetics 25.5 (1984): 422-428.
- 25. Rosenthal R, Doyle JT. Congenital aortic stenosis. NY State J Med 1965;65:2793-6.
- 26. Folger GM Jr. Further observations on the syndrome of idiopathic infantile hypercalcemia associated with supravalvular aortic stenosis. Am Heart J 1977;93;455-62.
- 27. Klein, Alan J., et al. "Hyperacusis and otitis media in individuals with Williams syndrome." Journal of Speech and Hearing Disorders 55.2 (1990): 339-344.
- 28. Levitin, Daniel J., et al. "Aversion, awareness, and attraction: investigating claims of hyperacusis in the Williams syndrome phenotype." Journal of child psychology and psychiatry 46.5 (2005): 514-523.
- 29. Gosch, Angela, Gabriele Städing, and Rainer Pankau. "Linguistic abilities in children with Williams‐Beuren syndrome." American Journal of Medical Genetics 52.3 (1994): 291-296.
- 30. Nordgarden H, Jensen JL, Storhaug K. Oligodontia is associated with extra-oral ectodermal symptoms and low whole salivary flow rates. Oral Dis 2001;7:226-32
Details
| Primary Language | English |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Case Reports |
| Authors | |
| Publication Date | December 29, 2019 |
| Submission Date | November 5, 2019 |
| Published in Issue | Year 2019Volume: 22 Issue: 4 |
Cited By
Ten Years of Micro-CT in Dentistry and Maxillofacial Surgery: A Literature Overview
Applied Sciences
Ilaria Campioni
https://doi.org/10.3390/app10124328
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