Abstract |
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.
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Authors | A Czeizel, I Ludányi |
Journal | European journal of pediatrics
(Eur J Pediatr)
Vol. 144
Issue 4
Pg. 331-7
(Nov 1985)
ISSN: 0340-6199 [Print] Germany |
PMID | 4076249
(Publication Type: Journal Article)
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Topics |
- Abnormalities, Multiple
(etiology, 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)
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