Hashim Eman Awadh Abduladheem, Quek Bin Huey, Chandran Suresh
Department of Neonatology, KK Women's and Children's Hospital, Singapore, Singapore.
Department of Neonatology, Salmanya Medical Complex, Manama, Kingdom of Bahrain.
Transl Pediatr. 2021 Apr;10(4):1008-1019. doi: 10.21037/tp-20-320.
Poland's syndrome (PS) is a rare musculoskeletal congenital anomaly with a wide spectrum of presentations. It is typically characterized by hypoplasia or aplasia of pectoral muscles, mammary hypoplasia and variably associated ipsilateral limb anomalies. Limb defects can vary in severity, ranging from syndactyly to phocomelia. Most cases are sporadic but familial cases with intrafamilial variability have been reported. Several theories have been proposed regarding the genesis of PS. Vascular disruption theory, "the subclavian artery supply disruption sequence" (SASDS) remains the most accepted pathogenic mechanism. Clinical presentations can vary in severity from syndactyly to phocomelia in the limbs and in the thorax, rib defects to severe chest wall anomalies with impaired lung function. Most patients have subtle presentation at birth and milder forms in childhood. Functional limitations due to PS are usually minimal. Surgical treatment aims to improve pulmonary functions arising from severe thoracic deformities but is more often done to enhance the cosmesis. The use of adipose-derived mesenchymal stem cells and fat transfer have shown promising results in recent times for correction of chest defects and breast augmentation. Gaining deeper insights into the etiopathogenesis and clinical presentation of PS will improve the clinical recognition and management of this rare condition. In this review article, we aim to outline the details of this syndrome including its etiopathogenesis, evolution, spectrum of clinical manifestations, other systemic associations, diagnostic modalities, and recent advances in treatment.
波兰综合征（PS）是一种罕见的肌肉骨骼先天性异常，临床表现多样。其典型特征为胸肌发育不全或缺失、乳腺发育不全，并常伴有同侧肢体异常。肢体缺陷的严重程度各不相同，从并指到短肢畸形不等。大多数病例为散发性，但也有家族性病例的报道，且家族内存在变异性。关于PS的发病机制，已提出多种理论。血管破坏理论，即“锁骨下动脉供血中断序列”（SASDS）仍是最被认可的致病机制。临床表现的严重程度各异，肢体方面从并指到短肢畸形，胸部方面从肋骨缺陷到严重胸壁异常并伴有肺功能受损。大多数患者出生时表现轻微，儿童期症状较轻。PS导致的功能限制通常较小。手术治疗旨在改善严重胸廓畸形引起的肺功能，但更多时候是为了改善外观。近年来，脂肪来源的间充质干细胞和脂肪移植在矫正胸部缺陷和隆胸方面显示出了有前景的结果。深入了解PS的病因发病机制和临床表现将提高对这种罕见疾病的临床认识和管理水平。在这篇综述文章中，我们旨在概述该综合征的详细情况，包括其病因发病机制、演变过程、临床表现谱、其他系统关联、诊断方法以及治疗方面的最新进展。
