Briner V, Thiel G
Departement für Innere Medizin, Universitätsspital Basel.
Schweiz Med Wochenschr. 1988 Jun 11;118(23):898-903.
Poland's syndrome is characterized by congenital aplasia of the sternocostal head of the pectoralis major muscle associated with ipsilateral hand deformities (most often synbrachydactylia). 20% of patients have rib cage abnormalities, some with herniation of the lung. In some cases other associated ipsilateral anomalies (hypoplasia or absence of the nipple and/or the breast, defects of the vertebrae, dextrocardia, renal aplasia of hypoplasia, undescended testes, Möbius syndrome) have been described. We describe a patient with right-sided Poland's syndrome, the first published case associated with megacalycosis of the ipsilateral kidney. It is also the first publication of a familial case with this renal anomaly, since a brother has megacalycosis of the right kidney without Poland's syndrome. The majority of cases of Poland's syndrome are sporadic. The incidence has been estimated at between 1:30,000 and 1:80,000 of live births. The great uncle of our patient had a short forearm and only rudimentary fingers. The etiology of the syndrome is unknown. Toxic effects early in fetal life or effects on primary asymmetrical blood vessels, e.g. the subclavian artery, followed by uneven growth, are discussed as possible causes of Poland's syndrome.
波兰综合征的特征是胸大肌胸肋头先天性发育不全,并伴有同侧手部畸形(最常见的是并指短指畸形)。20%的患者有胸廓异常,部分患者伴有肺疝。在某些病例中,还描述了其他相关的同侧异常(乳头和/或乳房发育不全或缺失、脊椎缺陷、右位心、肾发育不全或发育不良、隐睾、莫比乌斯综合征)。我们报告一例右侧波兰综合征患者,这是首例与同侧肾大盏症相关的病例报道。这也是首例伴有这种肾脏异常的家族性病例报道,因为患者的兄弟虽有右肾大盏症,但无波兰综合征。波兰综合征大多为散发病例。据估计,其发病率在活产婴儿中为1:30000至1:80000。我们患者的叔祖父有前臂短小和仅存的残指。该综合征的病因尚不清楚。胎儿早期的毒性作用或对主要不对称血管(如锁骨下动脉)的影响,继而导致生长不均衡,被认为是波兰综合征可能的病因。