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VACTERL Association

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VACTERL association is used to describe the association of Vertebral defects (60%), Anal atresia or stenosis (60%), Cardiac defects (60%), Tracheo-Esophageal fistula (85%), Radial ray defects (65%)and Renal anomalies (60%). Most cases are sporadic. Damian et al., (1996) reported a female infant with features of the condition who died at one month of age. The mother and her sister developed features of MELAS and investigations showed A-G point mutation at nucleotide position 3243. Analysis of renal tissue from the affected child showed the same mutations. The authors suggest a causal connection between the mutations and the VACTERL features, but this could just be coincidental.There have been cases with VACTERL association with hydrocephalus. Briard et al., (1984) reported 16 cases with features of VATER association together with hydrocephalus and an aqueduct stenosis and Froster et al., (1996) reported two brothers with this combination. They also had external ear abnormalities including atresia of the external auditory canal. One sib had a hypoplastic pancreas and abnormal lung lobation. Chromosome analysis was normal without abnormal breakage. The association of VACTERL and hydrocephalus seems to be genetically heterogeneous. At least one form is X-linked, and the others seems to be autosomal recessive. Some of these cases may be a manifestation of the Fanconi anaemia gene. Title: A patient with VACTERL association, amelia and hemifacial microsomia. Author: Aftimos S, Winship I. Journal: Clin Dysmorphol Apr;8(2):135-7 Year: 1999 Title: Prenatal ultrasonographic diagnosis of radial-ray reduction malformations. Author: Brons JT, van der Harten HJ, van Geijn HP, Wladimiroff JW, Niermeijer MF, Lindhout D, Stuart PA, Meijer CJ, Ar Journal: Prenat Diagn May;10(5):279-88 Year: 1990 Title: Tracheal agenesis revisited: analysis of associated anomalies. Author: Evans JA, Greenberg CR, Erdile L. Journal: Am J Med Genet Feb 19;82(5):415-22 Year: 1999 Title: Ventriculomegaly with radial and renal defects: prenatal diagnosis in two consecutive sibs. Author: Kovacs T, Csecsei K, Szabo M, Toth Z, Veress L, Papp Z. Journal: Am J Med Genet Dec 19;73(3):259-62 Year: 1997 Title: Ventriculomegaly with radial and renal defects: prenatal diagnosis in two consecutive sibs. Author: Kovacs T, Csecsei K, Szabo M, Toth Z, Veress L, Papp Z. Journal: Am J Med Genet Dec 19;73(3):259-62 Year: 1997 Title: Primary developmental field. III: Clinical and epidemiological study of blastogenetic anomalies and their relationship to different MCA patterns. Author: Martinez-Frias ML, Frias JL. Journal: Am J Med Genet May 2;70(1):11-5 Year: 1997 Title: VACTERL as primary, polytopic developmental field defects. Author: Martinez-Frias ML, Frias JL. Journal: Am J Med Genet Mar 5;83(1):13-6 Year: 1999 Title: Familial recurrence of tracheoesophageal fistula and associated malformations. Author: McMullen KP, Karnes PS, Moir CR, Michels VV. Journal: Am J Med Genet 63:525-528. Year: 1996 Title: Drug induced VATER association: is dibenzepin a possible cause? (Letter). Author: Merlob P, Naor N. Journal: J Med Genet 31:423. Year: 1994 Title: VACTERL manifestations in two generations of a family. Author: Nezarati MM, McLeod DR. Journal: Am J Med Genet Jan 1;82(1):40-2 Year: 1999 Title: Brief clinical report: Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. Author: Rossbach HC, Sutcliffe MJ, Haag MM, Grana NH, Rossi AR, Barbosa JL. Journal: Am J Med Genet 61:65-67. Year: 1996 Title: Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association. Author: Stone DL, Biesecker LG. Journal: Am J Med Genet Oct 17;72(2):237-8 Year: 1997 Title: VACTERL with hydrocephalus. A distinct entity with a variable spectrum of multiple congenital anomalies. Author: Vandenborre K, Beemer F, Fryns JP. Journal: Genet Couns 4(3):199-201 Year: 1993

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