A study of level of lesion, associated malformations and sib occurrence risks in spina bifida

摘要: Neural tube defects remain the most serious common birth defect and, despite considerable progress in understanding these malformations, etiology of cases remains unknown. It has been proposed that cause may vary with type and location malformation but, if variables are to be studied, a rigorous classification is required. This become more important as prevalence fallen, mainly due prenatal diagnosis elective termination pregnancy, future studies will increasingly require collaboration between centres. In this study we have combined data from Ottawa, Ontario, Boston, Massachusetts, an attempt examine effect level spina bifida on sib occurrence rates associated compare lesion when determined radiographically recorded clinical chart. Malformations appeared frequent thoracic were often additional vertebral anomalies. Significant differences found upper file visible radiographically. Sib recurrences too few for statistical comparison, but suggest higher rate among sibs distant relatives propositi lesions. There was not evidence support greater than expected concordance sibs.