Psikomotor Retardasyon, Vena Cava İnferior ve Sakrum Agenezisi İle İlişkili Vacterl Anomalisinin Nadir Özellikleri

Abstract

Bu makalede yüz ve ekstremite anomalileri, sakral agenezi, ASD, VUR ve vena kava inferior yokluğu olan 3 yaşında kız hasta sunulmaktadır. VACTERL anomalisi ile ilişkili vena kava inferior agenezisi literatürde daha önce tanımlanmamıştır. Ekstremite anomalileri ile doğan yenidoğanların ve infantların diğer anomaliler açısından daha iyi incelenmesi faydalı olacaktır.

Keywords

• Sakral agenezi, VACTERL, Vena kava inferior

Psikomotor Retardasyon, Vena Cava İnferior ve Sakrum Agenezisi İle İlişkili Vacterl Anomalisinin Nadir Özellikler

Abstract

We report a 3-year-old female. Her malformations included facial and limb abnormalities, sacral agenesis, ASD, VUR and the absence of inferior vena cava. Vena cava inferior agenesis association with VACTERL has not been reported in the literature before. Newborn or infants with limb anomalies should be better evaluated for the other anomalies

Keywords

• Sacral agenesis, VACTERL, Vena cava inferior

References

1. Quan L, Smith DW. The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: A spectrum of associated defects. J Pediatr 1973;(82):104-7.
2. Temtamy SA, Miller JD. Extending the scope of the VATER association: Definition of the VATER syndrome. J Pediatr 1974;85:345-9.
3. Martinez-Frias ML, Frias JL. VACTERL as primary, polytopic developmental field defects. Am J Med Genet 1999;83:13-6.
4. Solomon BD. VACTERL/VATER Association. Orphanet J Rare Dis 2011;6:56.
5. Dieker H, Opitz JM. Associated acral and renal malformations. Birth Defects Original Article Series 1969;V(3):68–77.
6. Kroes HY, Olney RS, Rosano A, Liu Y, Castilla EE, Cocchi E, et al. Renal defects and limb deficiencies in 197 infants: Is it possible to define the ‘‘acrorenal syndrome’’? Am J Med Genet 2004;129A:149-55.
7. 7. Lash JW. Normal embryology and Teratogenesis: Implıcatıons for pathological development from experiment embryology. Am J Obst Gynecol 1964;(90 Suppl):1193-207.
8. 8. Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven R, et al. The spectrum of congenital anomalies of the VATER association: An international study. Am J Med Genet 1997;71:8-15.

9. 9. Rittler M, Paz JE, Castilla EE. VACTERL association, epidemiologic definition and delineation. Am J Med Genet 1996;63:529-36.
10. 10. Weaver DD, Mapstone CL, Yu PL. The VATER association. Analysis of 46 patients. Am J Dis Child 1986;140:225-9.
11. 11. Solomon BD, Pineda-Alvarez DE, Raam MS, Bous SM, Keaton AA, Vélez JI, et al. Analysis of component findings in 79 patients diagnosed with VACTERL association. Am J Med Genet A 2010;152A:2236-44.
12. 12. Raam MS, Pineda-Alvarez DE, Hadley DW, Solomon BD. Longterm outcomes of adults with features of VACTERL association. Eur J Med Genet 2011;54:34-41.
13. 13. Postema PG, Rammeloo LAJ, van Litsenburg R, Rothuis EG, Hruda J. Left superior vena cava in pediatric cardiology associated with extra-cardiac anomalies. Int J Cardiol 2008;123:302-6.
14. 14. Martinez-Frias ML, Frias JL. VACTERL as primary, polytopic developmental field defects. Am J Med Genet 1999;83:13-6.
15. 15. Martinez-Frias ML, Frias JL, Opitz JM. Errors of morphogenesis and developmental field theory. Am J Med Genet 1998;76:291-6