Gausewitz S H, Meals R A, Setoguchi Y
Clin Orthop Relat Res. 1984 May(185):9-13.
Although Poland's syndrome is classically considered to consist of simple syndactyly, limb hypoplasia, and ipsilateral pectoral muscle agenesis, a rate group of patients with pectoral agenesis has more severe limb deficiencies. In ten of these patients and in similar patients reported in the literature, a broad range of limb deformities was observed. The authors classified the patients according to limb anomalies: type 1, five digits present even if hypoplastic; type 2, functional border digits with the absence of central digits; type 3, more severe absence deformities with no functional digits; and type 4, radial ray defects with absent thumb. The understanding that Poland's syndrome includes a spectrum of limb anomalies is important in searching for associated birth defects, in genetic counseling, and, possibly, in elucidating the pathogenesis of the syndrome.
虽然波兰综合征传统上被认为由单纯并指、肢体发育不全和同侧胸肌发育不全组成，但一组有胸肌发育不全的患者存在更严重的肢体缺陷。在其中10例此类患者以及文献报道的类似患者中，观察到了广泛的肢体畸形。作者根据肢体异常对患者进行了分类：1型，即使发育不全也有五指；2型，有功能性边缘指而无中央指；3型，更严重的缺如畸形且无功能性手指；4型，伴有拇指缺如的桡侧射线缺陷。认识到波兰综合征包括一系列肢体异常对于寻找相关出生缺陷、进行遗传咨询以及可能阐明该综合征的发病机制具有重要意义。
