Paediatric radiology
Case TypeClinical Cases
AuthorsAndroniki Kozana1, Evangelia Vassalou1, Emmanouela Modatsou1, Eleftheria Chatzidaki2, Maria Raissaki1
Patient1 days, female
[1] Quan L, Smith DW (1973) The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects. J Pediatr 82:104–107 (PMID: 4681850)
[2] Solomon B (2011) VACTERL/VATER association. Orphanet J Rare Dis 6(1): 56 (PMID: 21846383)
[3] Solomon BD, Pineda-Alvarez DE, Raam MS et al (2010) Evidence for inheritance in patients with VACTERL association. Hum Genet 127:731-733 (PMID: 20369369)
[4] Chen Y, Liu Z, Chen J, et al (2016) The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. J Med Genet 53(7):431-7 (PMID: 27084730)
[5] Solomon B, Bear K, Kimonis V et al (2012) Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet 158(12):3087-3100 (PMID: 23165726)
[6] La Placa S, Giuffrè M, Gangemi A et al (2013) Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?. Ital J Pediatr 39 (1):1–8 (PMID: 23842449)
[7] Cunningham BK, Hadley D, Hannoush H et al (2013) Analysis of cardiac anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol 97(12): 792-797 (PMID: 24343877)
[8] Spitz L (2007) Oesophageal atresia. Orphanet J Rare Dis 2:24 (PMID: 17498283)
[9] Kovesi T, Rubin S (2004) Long-term complications of congenital esophageal atresia and/or tracheoesophageal fistula. Chest 126(3):915-25 (PMID: 15364774)
[10] Cunningham B, Khromykh A, Martinez AF et al (2014) Analysis of renal anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol 100(10):801-5 (PMID: 25196458)
[11] Ahn SY, Mendoza S, Kaplan G et al (2009) Chronic kidney disease in the VACTERL association: clinical course and outcome. Pediatr Nephrol 24(5):1047-53 (PMID: 25196458)
[12] Evans JA, Vitez M, Czeizel A (1994) Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984). Am J Med Genet 49(1):52-66 (PMID: 8172251)
[13] Solomon BD, Baker LA, Bear KA et al (2014) An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association. J Pediatr 164(3):451-7.e1 (PMID: 24332453)
URL: | https://www.eurorad.org/case/15691 |
DOI: | 10.1594/EURORAD/CASE.15691 |
ISSN: | 1563-4086 |
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