WIEDEMANN–RAUTENSTRAUCH SYNDROME: CASE REPORT

İrem İpek; Cansu Derdiyok; Fatih Öznurhan

doi:10.7126/cumudj.1127344

EN

WIEDEMANN–RAUTENSTRAUCH SYNDROME: CASE REPORT

Abstract

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.

Keywords

References

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