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Yıl 2022, Cilt 25, Sayı 3, 282 - 284, 01.10.2022
https://doi.org/10.7126/cumudj.1127344

Öz

Kaynakça

  • 1. Batur M, Seven E, Çinal A, Yasar T. Wiedemann–Rautenstrauch Syndrome With Bilateral Tarsal Kink: Three Sutures for Correction. J Craniofac Surg 2017; 28: 831-832
  • 2. Jäger M, Thorey F, Westhoff B, Wild A, Krauspe R. In vitro osteogenic differentiation is affected in Wiedemann-Rautenstrauch-Syndrome (WRS). in vivo 2005; 19: 831-836
  • 3. Jay AM, Conway RL, Thiffault I, Saunders C, Farrow E, Adams J ve ark. Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. Am J Med Genet A 2016; 170: 3343-3346
  • 4. Fellner A, Lossos A, Kogan E, Argov Z, Gonzaga‐Jauregui C, Shuldiner AR ve ark. Two intronic cis‐acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia. Clin Genet 2021; 99: 713-718
  • 5. Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F ve ark. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain 2017; 140: 1561-1578
  • 6. Arboleda H, Quintero L, Yunis E. Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients. J Med Genet 1997; 34: 433-437
  • 7. Arboleda H, Arboleda G. Follow‐up study of Wiedemann‐Rautenstrauch syndrome: Long‐term survival and comparison with Rautenstrauch's patient “G”. Birth Defects Res Part A Clin Mol Teratol 2005; 73: 562-568
  • 8. Thorey F, Jäger M, Seller K, Krauspe R, Wild A. Kyphoskoliose beim Wiedemann-Rautenstrauch-Syndrom (neonatales Progerie Syndrom). Z Orthop Unfall 2003; 141: 341-344
  • 9. Arboleda G, Morales LC, Quintero L, Arboleda H. Neonatal progeroid syndrome (Wiedemann–Rautenstrauch syndrome): Report of three affected sibs. Am J Med Genet A 2011; 155: 1712-1715
  • 10. Rautenstrauch T, Snigula F, Wiedemann H-R. Neonatales progeroides Syndrom (Wiedemann-Rautenstrauch). Klin Padiatr 1994; 206: 440-443
  • 11. Hanumanthappa NB, Madhusudan G, Mahimarangaiah J, Manjunath CN. Hutchinson–Gilford progeria syndrome with severe calcific aortic valve stenosis. Ann Pediatr Cardiol 2011; 4: 204
  • 12. Arboleda G, Ramírez N, Arboleda H. The neonatal progeroid syndrome (Wiedemann–Rautenstrauch): A model for the study of human aging? Exp Gerontol 2007; 42: 939-943
  • 13. Pivnick EK, Angle B, Kaufman RA, Hall BD, Pitukcheewanont P, Hersh JH ve ark. Neonatal progeroid (Wiedemann‐Rautenstrauch) syndrome: Report of five new cases and review. Am J Med Genet 2000; 90: 131-140
  • 14. Pollex R, Hegele RA. Hutchinson–Gilford progeria syndrome. Clin Genet 2004; 66: 375-381
  • 15. Wesley R, Delaney J, Litt R. Progeria: Clinical considerations of an isolated case. ASDC J Dent Child 1979; 46: 487-492
  • 16. Hasty M, Vann Jr W. Progeria in a pediatric dental patient: literature review and case report. Pediatr Dent 1988; 10: 314-319
  • 17. Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, Berns SD ve ark. Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development. Pediatr 2007; 120: 824-833
  • 18. Yu QX, Zeng LH. Progeria: report of a case and review of the literature. J Oral Pathol Med 1991; 20: 86-88
  • 19. Tan WH, Baris H, Robson CD, Kimonis VE. Cockayne syndrome: the developing phenotype. Am J Med Genet A 2005; 135: 214-216
  • 20. Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992; 42: 68-84
  • 21. Robotta P, Dent M, Schäfer E. Hallermann-Streiff syndrome: Case report and literature review. Quintessence Int 2011; 42: 331-338
  • 22. Nicholson A, Menon S. Hallerman-Streiff syndrome. J Postgrad Med 1995; 41: 22-23
  • 23. Punithavathy JJ, Priya G, Elango I. Stalin. Familial nonsyndromic oligodontia. Contemp Clin Dent 2012; 3: S188-190
  • 24. Robotta P, Dent M, Schäfer E. Hallermann-Streiff syndrome: Case report and literature review. Quintessence Int 2011; 42

WIEDEMANN–RAUTENSTRAUCH SYNDROME: CASE REPORT

Yıl 2022, Cilt 25, Sayı 3, 282 - 284, 01.10.2022
https://doi.org/10.7126/cumudj.1127344

Öz

Neonatal-progeroid syndrome known as Wiedemann Rautenstrauch syndrome (WRS) is an extremely rare, autosomal recessive disorder. Neonatal progeroid disease characterized by progeroid appearance growth retardation, lipodystrophy, an unusual face (triangular shape, sparse hair, small mouth, macrocephaly, pointed jaw), thin skin, hard and thick joints and dental anomalies (newborn tooth; hypodontics). A 5-year-old boy case diagnosed with hypodontics is presented. In this case, a child prosthesis was performed to facilitate the nutrition of the patient and to increase the quality of life.

Kaynakça

  • 1. Batur M, Seven E, Çinal A, Yasar T. Wiedemann–Rautenstrauch Syndrome With Bilateral Tarsal Kink: Three Sutures for Correction. J Craniofac Surg 2017; 28: 831-832
  • 2. Jäger M, Thorey F, Westhoff B, Wild A, Krauspe R. In vitro osteogenic differentiation is affected in Wiedemann-Rautenstrauch-Syndrome (WRS). in vivo 2005; 19: 831-836
  • 3. Jay AM, Conway RL, Thiffault I, Saunders C, Farrow E, Adams J ve ark. Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. Am J Med Genet A 2016; 170: 3343-3346
  • 4. Fellner A, Lossos A, Kogan E, Argov Z, Gonzaga‐Jauregui C, Shuldiner AR ve ark. Two intronic cis‐acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia. Clin Genet 2021; 99: 713-718
  • 5. Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F ve ark. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain 2017; 140: 1561-1578
  • 6. Arboleda H, Quintero L, Yunis E. Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients. J Med Genet 1997; 34: 433-437
  • 7. Arboleda H, Arboleda G. Follow‐up study of Wiedemann‐Rautenstrauch syndrome: Long‐term survival and comparison with Rautenstrauch's patient “G”. Birth Defects Res Part A Clin Mol Teratol 2005; 73: 562-568
  • 8. Thorey F, Jäger M, Seller K, Krauspe R, Wild A. Kyphoskoliose beim Wiedemann-Rautenstrauch-Syndrom (neonatales Progerie Syndrom). Z Orthop Unfall 2003; 141: 341-344
  • 9. Arboleda G, Morales LC, Quintero L, Arboleda H. Neonatal progeroid syndrome (Wiedemann–Rautenstrauch syndrome): Report of three affected sibs. Am J Med Genet A 2011; 155: 1712-1715
  • 10. Rautenstrauch T, Snigula F, Wiedemann H-R. Neonatales progeroides Syndrom (Wiedemann-Rautenstrauch). Klin Padiatr 1994; 206: 440-443
  • 11. Hanumanthappa NB, Madhusudan G, Mahimarangaiah J, Manjunath CN. Hutchinson–Gilford progeria syndrome with severe calcific aortic valve stenosis. Ann Pediatr Cardiol 2011; 4: 204
  • 12. Arboleda G, Ramírez N, Arboleda H. The neonatal progeroid syndrome (Wiedemann–Rautenstrauch): A model for the study of human aging? Exp Gerontol 2007; 42: 939-943
  • 13. Pivnick EK, Angle B, Kaufman RA, Hall BD, Pitukcheewanont P, Hersh JH ve ark. Neonatal progeroid (Wiedemann‐Rautenstrauch) syndrome: Report of five new cases and review. Am J Med Genet 2000; 90: 131-140
  • 14. Pollex R, Hegele RA. Hutchinson–Gilford progeria syndrome. Clin Genet 2004; 66: 375-381
  • 15. Wesley R, Delaney J, Litt R. Progeria: Clinical considerations of an isolated case. ASDC J Dent Child 1979; 46: 487-492
  • 16. Hasty M, Vann Jr W. Progeria in a pediatric dental patient: literature review and case report. Pediatr Dent 1988; 10: 314-319
  • 17. Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, Berns SD ve ark. Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development. Pediatr 2007; 120: 824-833
  • 18. Yu QX, Zeng LH. Progeria: report of a case and review of the literature. J Oral Pathol Med 1991; 20: 86-88
  • 19. Tan WH, Baris H, Robson CD, Kimonis VE. Cockayne syndrome: the developing phenotype. Am J Med Genet A 2005; 135: 214-216
  • 20. Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992; 42: 68-84
  • 21. Robotta P, Dent M, Schäfer E. Hallermann-Streiff syndrome: Case report and literature review. Quintessence Int 2011; 42: 331-338
  • 22. Nicholson A, Menon S. Hallerman-Streiff syndrome. J Postgrad Med 1995; 41: 22-23
  • 23. Punithavathy JJ, Priya G, Elango I. Stalin. Familial nonsyndromic oligodontia. Contemp Clin Dent 2012; 3: S188-190
  • 24. Robotta P, Dent M, Schäfer E. Hallermann-Streiff syndrome: Case report and literature review. Quintessence Int 2011; 42

Ayrıntılar

Birincil Dil İngilizce
Konular Sağlık Bilimleri ve Hizmetleri
Yayınlanma Tarihi Güz
Bölüm Case Reports
Yazarlar

İrem İPEK> (Sorumlu Yazar)
FIRAT ÜNİVERSİTESİ, DİŞ HEKİMLİĞİ FAKÜLTESİ
0000-0002-3542-7122
Türkiye


Cansu DERDİYOK>
SİVAS CUMHURİYET ÜNİVERSİTESİ DİŞ HEKİMLİĞİ FAKÜLTESİ
0000-0002-6886-1662
Türkiye


Fatih ÖZNURHAN>
SİVAS CUMHURİYET ÜNİVERSİTESİ DİŞ HEKİMLİĞİ FAKÜLTESİ
0000-0002-7797-0932
Türkiye

Yayımlanma Tarihi 1 Ekim 2022
Başvuru Tarihi 10 Haziran 2022
Kabul Tarihi 26 Temmuz 2022
Yayınlandığı Sayı Yıl 2022, Cilt 25, Sayı 3

Kaynak Göster

EndNote %0 Cumhuriyet Dental Journal WIEDEMANN–RAUTENSTRAUCH SYNDROME: CASE REPORT %A İrem İpek , Cansu Derdiyok , Fatih Öznurhan %T WIEDEMANN–RAUTENSTRAUCH SYNDROME: CASE REPORT %D 2022 %J Cumhuriyet Dental Journal %P 1302-5805-2146-2852 %V 25 %N 3 %R doi: 10.7126/cumudj.1127344 %U 10.7126/cumudj.1127344

Cumhuriyet Dental Journal (Cumhuriyet Dent J, CDJ) is the official publication of Cumhuriyet University Faculty of Dentistry. CDJ is an international journal dedicated to the latest advancement of dentistry. The aim of this journal is to provide a platform for scientists and academicians all over the world to promote, share, and discuss various new issues and developments in different areas of dentistry. First issue of the Journal of Cumhuriyet University Faculty of Dentistry was published in 1998. In 2010, journal's name was changed as Cumhuriyet Dental Journal. Journal’s publication language is English.


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