Baas Martijn, Burger Elise B, Sneiders Dimitri, Galjaard Robert-Jan H, Hovius Steven E R, van Nieuwenhoven Christianne A
Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus University Medical Center, Rotterdam, The Netherlands.
Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus University Medical Center, Rotterdam, The Netherlands.
J Hand Surg Am. 2018 Feb;43(2):186.e1-186.e16. doi: 10.1016/j.jhsa.2017.08.029. Epub 2017 Oct 14.
Poland syndrome was first described as a deficiency of the pectoral muscle with ipsilateral symbrachydactyly. Currently, numerous case reports describe variations of Poland syndrome in which pectoral muscle deficiency is often used as the only defining criterion. However, more syndromes can present with pectoral muscle deficiency. The aim of this review is to illustrate the diversity of the phenotypic spectrum of Poland syndrome and to create more awareness for alternative diagnoses in pectoral muscle deficiency.
A systematic literature search was performed. Articles containing phenotypical descriptions of Poland syndrome were included. Data extraction included number of patients, sex, familial occurrence, and the definition of Poland syndrome used. In addition, hand deformities, thoracic deformities, and other deformities in each patient were recorded. Alternative syndrome diagnoses were identified in patients with a combination of hand, thorax, and other deformities.
One hundred-and-thirty-six articles were included, describing 627 patients. Ten different definitions of Poland syndrome were utilized. In 58% of the cases, an upper extremity deformity was found and 43% of the cases had an associated deformity. Classic Poland syndrome was seen in 29%. Fifty-seven percent of the patients with a pectoral malformation, a hand malformation, and another deformity had at least 1feature that matched an alternative syndrome.
Pectoral muscle hypoplasia is not distinctive for Poland syndrome alone but is also present in syndromes with other associated anomalies with a recognized genetic cause. Therefore, in patients with an atypical phenotype, we recommend considering other diagnoses and/or syndromes before diagnosing a patient with Poland syndrome. This can prevent diagnostic and prognostic errors.
Differentiating Poland syndrome from the alternative diagnoses has serious consequences for the patient and their family in terms of inheritance and possible related anomalies.
波兰综合征最初被描述为伴有同侧短指并指畸形的胸肌缺损。目前，众多病例报告描述了波兰综合征的各种变异情况，其中胸肌缺损常被用作唯一的诊断标准。然而，还有更多综合征可能表现为胸肌缺损。本综述的目的是阐明波兰综合征表型谱的多样性，并提高对胸肌缺损时其他诊断可能性的认识。
进行了系统的文献检索。纳入包含波兰综合征表型描述的文章。数据提取包括患者数量、性别、家族发病情况以及所使用的波兰综合征定义。此外，记录每位患者的手部畸形、胸部畸形及其他畸形情况。在伴有手部、胸部及其他畸形的患者中确定其他综合征诊断。
纳入136篇文章，描述了627例患者。使用了10种不同的波兰综合征定义。58%的病例发现有上肢畸形，43%的病例伴有相关畸形。经典波兰综合征占29%。在有胸肌畸形、手部畸形及其他畸形的患者中，57%至少有1项特征与其他综合征相符。
胸肌发育不全并非波兰综合征所特有，在其他具有公认遗传病因且伴有相关异常的综合征中也可出现。因此，对于表型不典型的患者，我们建议在诊断波兰综合征之前考虑其他诊断和/或综合征。这可避免诊断和预后错误。
区分波兰综合征与其他诊断对于患者及其家族在遗传及可能的相关异常方面具有严重影响。
