RESUMO
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.
Assuntos
Anormalidades Múltiplas/etiologia , Anus Imperfurado/etiologia , Cardiopatias Congênitas/etiologia , Rim/anormalidades , Deformidades Congênitas dos Membros , Coluna Vertebral/anormalidades , Fístula Traqueoesofágica/etiologia , Anormalidades Múltiplas/genética , Adulto , Feminino , Retardo do Crescimento Fetal/complicações , Humanos , Recém-Nascido , Infertilidade Feminina/complicações , Masculino , Idade Materna , Linhagem , Gravidez , Fatores SexuaisAssuntos
Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/genética , Anus Imperfurado/etiologia , Anus Imperfurado/genética , Ectromelia/etiologia , Ectromelia/genética , Cardiopatias Congênitas/etiologia , Cardiopatias Congênitas/genética , Humanos , Rim/anormalidades , Coluna Vertebral/anormalidades , Síndrome , Fístula Traqueoesofágica/etiologia , Fístula Traqueoesofágica/genéticaRESUMO
The so-called 89 VACTERL cases i.e. three or more combinations of vertebral abnormalities (V), anal atresia (A), cardial abnormalities (C), tracheo-oesophageal fistula and/or oesophageal atresia (TE), renal agenesis and dysplasia (R), limb defect (mainly radial-type reduction or polydactyly) (L) were evaluated in the material of the Hungarian Congenital Malformation Register, 1970-1980. The separation of true VACTERL cases (without other major congenital abnormalities) and mixed VACTERL cases (with other major congenital abnormalities) seemed to be necessary. The latter may be a manifestation of several recognized syndromes. The VACTERL-association, i.e. three or more closely defined VACTERL-type abnormalities without other major abnormalities may, however, present a distinct congenital abnormality entity because (i) the combination of VACTERL-type abnormalities is much higher than the expected one, (ii) the majority of cases could not be identified as other multiple congenital abnormality entities and (iii) it has some epidemiological characteristics (e.g. male preponderance).
