Fraser F C, Ronen G M, O'Leary E
Division of Community Medicine and Behavioural Sciences, Memorial University, St. John's, Newfoundland, Canada.
Am J Med Genet. 1989 Aug;33(4):468-70. doi: 10.1002/ajmg.1320330409.
We report on a patient with congenital absence of the left pectoralis major muscle, whose second cousin had the full Poland sequence. This suggests that isolated pectoralis major muscle defect should be included in the spectrum of anomalies characterized as the Poland sequence, postulated to result from disruption of blood supply in the embryonic subclavian and vertebral arteries, the site and degree of obstruction determining the sites and severity of the resulting anomalies. Very few cases are familial; in these the family pattern is compatible with an autosomal dominant mutant gene with reduced penetrance or delayed mutation.
我们报告了一名先天性左胸大肌缺如的患者，其二级表亲患有完全型波兰序列征。这表明孤立性胸大肌缺损应被纳入以波兰序列征为特征的异常谱系中，据推测该序列征是由胚胎期锁骨下动脉和椎动脉血液供应中断所致，阻塞的部位和程度决定了所产生异常的部位和严重程度。家族性病例极少；在这些病例中，家族模式符合常染色体显性突变基因，其外显率降低或存在延迟突变。
