title: VACTERL-association.
abstract: 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).
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification* / Q000453:epidemiology; D001003:Anal Canal / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D004947:Esophagus / Q000002:abnormalities*; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D006814:Hungary; D007668:Kidney / Q000002:abnormalities*; D017880:Limb Deformities, Congenital; D008297:Male; D013131:Spine / Q000002:abnormalities*; D009626:Terminology as Topic; D014132:Trachea / Q000002:abnormalities*