VATER asosiasyonu: Bir olgu sunumu

VATER asosiasyonu (V: Vertebral anomali, VSD ve diğer kardiyak defektler; A: Anal atrezi veyafistül; T-E: Trakeaözefagial fistül ile özefagus atrezisi; R: Radial displazi, başparmak veya radialhipoplazi, preaksial polidaktili, sindaktili, renal anomali) çeşitli anomaliler ile karekterize olan birkonjenital bozukluktur. Sunulan olguda opere özefagus atrezisi ve trakeaözefagial fistül, operevestibuler anüs ve anal atrezi, sol el başparmak yokluğu, sol el 5.parmakta klinodaktili, pektuscarinatus, skolyoz, dolikosefali, kısa boyun, basık ve geniş burun kökü, kepçe kulak, sakral dimplebulunan 4 yaşında bir kız çocuğu tanımlanmıştır.

VATER accosiation: A case report

VATER association, (V: Vertebral anomaly, VSD and other cardiac defects; A: Anal atresia orfistula; T-E: Tracheoesophageal fistula with esofageal atresia; R: Radial dysplasia, thumb or radialhypoplasia, preaxial polidactyly, syndactyly, renal anomaly) is a relatively rare pattern of multiplecongenital abnormalities. İn this case, a 4-year-old female child with tracheoesophageal fistulawith esophageal atresia, vestibuler anus and anal atresia, left thumb agenesis and clinodactyly inleft hand fifth finger, pectus carinatus, scoliosis, short neck, broad and depressed nose, prominentear and sacral dimple is described.

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  • 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. Jones KL. SMITH’S Recognizable Patterns of Human Malformation. 6th ed. Philadelphia: Elsevier, 2006; pp: 188.
  • 3. Nezarati MM, McLeod DR. VACTERL manifestations in two generations of a family. Am J Med Genet 1999; 82: 40-2.
  • 4. Damian MS, Seibel P, Schachenmayr W, Reichmann H, Dorndorf W. VACTERL with the mitochondrial NP 3243 point mutation. Am J Med Genet 1996: 62: 398- 403.
  • 5. Cormier-Daire V, Rustin P, Rötig A, Chrétien D, Le Merrer M, Belli D, Le Goff A, Hubert P, Ricour C, Munnich A. Craniofacial anomalies and malformations in respiratory chain deficiency. Am J Med Genet 1996: 66: 457-63.
  • 6. Stone DL, Biesecker LG. Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association. Am J Med Genet 1997; 72: 237-8.
  • 7. Killoran CE, Abbott M, McKusick VA, Biesecker LG. Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. Clin Genet 2000: 58: 28-30.
  • 8. Walsh LE, Vance GH, Weaver DD. Distal 13q deletion syndrome and the VACTERL association: case report, literature review, and possible implications. Am J Med Genet 2001: 98: 137-44.
  • 9. Ghidini A, Sicherer S, Willner J. Congenital abnormalities (VATER) in baby born to mother using lovastatin. Lancet 1992; 1: 1416-7.
  • 10. Nora AH, Nora JJ. A syndrome of multiple congenital anomalies associated with teratogenic exposure. Arch Environ Health 1975; 30: 17-21.
  • 11. Merlob P, Naor N. Drug induced VATER association: is dibenzepin a possible cause? J Med Genet 1994: 31: 423.
  • 12. Levine F, Muenke M. VACTERL association with high prenatal lead exposure: similarities to animal models of lead teratogenicity. Pediatrics 1991: 87: 390-2.
Cumhuriyet Tıp Dergisi (ELEKTRONİK)-Cover
  • Yayın Aralığı: Yılda 4 Sayı
  • Yayıncı: Cumhuriyet Üniversitesi Tıp Fakültesi