An aetiological study of the VACTERL-association

Eur J Pediatr. 1985 Nov;144(4):331-7. doi: 10.1007/BF00441773.


This paper reports the results of the first population-based study of the aetiology of VACTERL-association (i.e., the occurrence of three or more closely defined VACTERL-type abnormalities without other major congenital abnormalities). Forty-three VACTERL-associations and 33 VACTERL-like cases (the latter representing combinations of three or more closely or broadly defined VACTERL abnormalities with other congenital abnormalities) were evaluated. The noteworthy features of the VACTERL-association are: a significant male preponderance, a fetal weight retardation in full-term pregnancies, planned conceptions occurring later than in general and a higher incidence of infertility problems. Our data support the thesis that genetic factors are probably not involved in the aetiology of the VACTERL-association. In contrast, the VACTERL-like cases have a female excess, a higher rate of advanced birth order, no disturbance in fertility and some specific familial occurrence. These findings strongly suggest that genetic factors play a role in the aetiology of this heterogeneous group of multiple congenital abnormalities.

MeSH terms

  • Abnormalities, Multiple / etiology*
  • Abnormalities, Multiple / genetics
  • Adult
  • Anus, Imperforate / etiology*
  • Female
  • Fetal Growth Retardation / complications
  • Heart Defects, Congenital / etiology*
  • Humans
  • Infant, Newborn
  • Infertility, Female / complications
  • Kidney / abnormalities*
  • Limb Deformities, Congenital*
  • Male
  • Maternal Age
  • Pedigree
  • Pregnancy
  • Sex Factors
  • Spine / abnormalities*
  • Tracheoesophageal Fistula / etiology*