An aetiological study of the VACTERL-association.
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.
D000015:Abnormalities, Multiple / Q000209:etiology* / Q000235:genetics; D000328:Adult; D001006:Anus, Imperforate / Q000209:etiology*; D005260:Female; D005317:Fetal Growth Retardation / Q000150:complications; D006330:Heart Defects, Congenital / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D007247:Infertility, Female / Q000150:complications; D007668:Kidney / Q000002:abnormalities*; D017880:Limb Deformities, Congenital; D008297:Male; D008423:Maternal Age; D010375:Pedigree; D011247:Pregnancy; D012737:Sex Factors; D013131:Spine / Q000002:abnormalities*; D014138:Tracheoesophageal Fistula / Q000209:etiology*