VATER asosiasyonu: Bir olgu sunumu

Gülseren Erkoca Göktolga; Hande Küçük Kurtulgan; Şenol Çitli; İlhan Sezgin

VATER asosiasyonu: Bir olgu sunumu

Year 2013, Volume: 35 Issue: 2, 255 - 258, 27.06.2013

Gülseren Erkoca Göktolga , Hande Küçük Kurtulgan Şenol Çitli İlhan Sezgin

Abstract

Özet

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

Anahtar sözcükler: VATER asosiasyonu, konjenital asosiasyon, vestibüler anüs, anal atrezi

Absract

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

Keywords: VATER association, congenital association, vestibuler anus, anal atresia

Keywords

VATER association, congenital association, vestibuler anus, anal atresia

References

Quan L, Smith DW. The VATER association. Vertebral defects, Anal atresia, TE fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects. J Pediatr 1973; 82: 104-7.
Jones KL. SMITH’S Recognizable Patterns of Human Malformation. 6th ed. Philadelphia: Elsevier, 2006; pp: 188.
Nezarati MM, McLeod DR. VACTERL manifestations in two generations of a family. Am J Med Genet 1999; 82: 40-2.
Damian MS, Seibel P, Schachenmayr W, Reichmann H, Dorndorf W. VACTERL with the mitochondrial NP 3243 point mutation. Am J Med Genet 1996: 62: 39840
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.
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.
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.
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.
Ghidini A, Sicherer S, Willner J. Congenital abnormalities (VATER) in baby born to mother using lovastatin. Lancet 1992; 1: 1416-7.
Nora AH, Nora JJ. A syndrome of multiple congenital anomalies associated with teratogenic exposure. Arch Environ Health 1975; 30: 17-21.
Merlob P, Naor N. Drug induced VATER association: is dibenzepin a possible cause? J Med Genet 1994: 31: 423.
Levine F, Muenke M. VACTERL association with high prenatal lead exposure: similarities to animal models of lead teratogenicity. Pediatrics 1991: 87: 390-2.