Poland syndrome

波兰综合征
  • 文章类型: Case Reports
    在常规解剖过程中有时会观察到解剖变化,其中一些与临床相关,因为它们可能导致某些临床表现或情况,而这些情况在不了解其可能性的情况下很难预测。单侧非综合征性完全没有胸肌的情况非常罕见。他们的缺席总是被发现与诸如波兰综合症或Sprengel畸形等综合症有关。在常规解剖中,我们遇到了2例非综合征性完全单侧胸大肌缺失的病例。在进一步检查这两种情况下的尸体时,没有其他骨骼(肋骨,肩胛骨),血管,乳房异常,或注意到肌肉发育不全(前锯齿肌或胸大肌的纤维)。由于胸大肌是潜在的手术标志,也可以用作面部复活手术和拇指对手成形术的肌皮瓣,在为这些手术采集皮瓣的过程中,胸大肌的缺失会让外科医生感到惊讶,所以这种罕见变异的可能性应该记录在案。
    Anatomical variations are observed at times during a routine dissection process and some of them are clinically relevant as they can lead to certain clinical presentations or situations that are difficult to anticipate without the knowledge about their possibility. The unilateral non-syndromic complete absence of pectoral muscles is very rare. Their absence is always found to be associated with syndromes like Poland syndrome or Sprengel\'s deformity. During the routine anatomical dissection, we encountered two cases of non-syndromic complete unilateral absence of the pectoralis minor muscle. On further inspection of the cadaver in both the cases, no other bony (ribs, scapula), vascular, breast abnormalities, or muscular aplasia (fibers of the serratus anterior or pectoralis major) was noted. As the pectoralis minor muscle serves as the potential surgical landmark and can also be used as the myo-cutaneous flaps for facial reanimation surgeries and in thumb opponensplasty, the absence of the pectoralis minor muscle would come as a surprise for the surgeons during the process of harvesting the flap for these procedures, so the possibility of this kind of rare variation should be documented.
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  • 文章类型: Journal Article
    波兰综合征(PS)是一种罕见的先天性肌肉骨骼实体,发生在大约30,000个新生儿中的1个,表现为不同的共生齿形,同侧肋软骨畸形,没有胸肌,和乳房发育不全。这些对社会有潜在的影响,躯体,和心理功能,经常导致受影响的个人就矫正手术寻求专家意见。由于表型变异,缺乏严格的管理指导方针,治疗决定通常基于专家的个人经验,而不是公布的证据。具有3D重建的CT和MRI综合成像对于提供肌肉骨骼缺陷的描述性评估至关重要。管理是多学科的,涉及胸部,塑料,儿科外科医生和手外科专家,以及心理学家和发展增长专家。手术应同时实现结构和美容矫正,以扭转心理和社会影响并实现患者满意度。我们的目标是为胸外科医生提供必要的答案,以便在咨询期间与受影响的成年人分享,重点是胸外科矫正。
    Poland syndrome (PS) is a rare congenital musculoskeletal entity occurring in approximately 1 in 30,000 newborns that manifests with variable symbrachydactyly, ipsilateral costochondral deformities, an absence of pectoral muscles, and breast underdevelopment. These have potential impacts on social, somatic, and psychological functionality, often leading affected individuals to seek expert opinions on corrective surgery. Due to phenotypic variability, strict management guidelines are lacking, with treatment decisions often based on the specialist\'s personal experience rather than published evidence. Comprehensive imaging with CT and MRI with 3D reconstruction is crucial for providing a descriptive assessment of musculoskeletal defects. Management is multidisciplinary, involving thoracic, plastic, and pediatric surgeons and hand surgery specialists, as well as psychologists and developmental growth specialists. Surgery should achieve both structural and cosmetic correction to reverse the psychological and social impact and achieve patient satisfaction. We aim to provide thoracic surgeons the essential answers for sharing with affected adult individuals during consultations focusing on chest surgical correction.
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  • 文章类型: Case Reports
    该案例研究重点介绍了一名79岁的男性,该男性患有严重的腰椎脊柱侧弯引起的慢性腰痛。体格检查显示单侧胸肌缺失和同侧手异常,波兰综合征(PS)的指示。患者还经历了由于慢性疼痛和PS相关异常引起的抑郁症。多学科方法被证明可以有效缓解疼痛和抑郁。
    This case study highlights a 79-year-old man with chronic low back pain attributed to severe lumbar scoliosis. Physical examination revealed the unilateral absence of pectoral muscles and ipsilateral hand anomalies, indicative of Poland syndrome (PS). The patient also experienced depression due to chronic pain and PS-related anomalies. A multi-disciplinary approach proved effective in alleviating both pain and depression.
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  • 文章类型: Letter
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  • 文章类型: Case Reports
    波兰综合征是一种偶然的先天性畸形,其特征是单侧胸壁发育不良和同侧上肢异常。波兰综合征和乳腺癌之间的关联已被报道,但波兰综合征和乳腺肿瘤之间没有明确的病因联系.我们报告了一例波兰综合征合并乳腺癌的病例,并分析了该病例中乳腺癌的临床特征及其对乳腺癌治疗选择的影响。
    2022年2月,我们收治了一名患有波兰综合征的47岁女性,涉及右肢合并右侧乳腺癌。入院后,患者接受了8个周期的新辅助治疗,并于2022年9月7日接受了改良根治术.右侧胸大肌和胸大肌缺失,胸廓畸形,术中观察到沿胸骨一侧至右腋下的粘合带。手术后,切口达到A级愈合,靶向治疗持续1年.术后随访8个月,患侧肢体功能恢复良好,无明显皮下积液,皮瓣坏死,上肢水肿,并观察其他并发症。
    波兰综合征患者的解剖变异对乳腺癌手术方法的选择有一定影响,但是否会影响患者的预后尚不清楚。阐明波兰综合征与乳腺癌的关系,我们将来需要更多病例进行病因研究。
    UNASSIGNED: Poland syndrome is an occasional congenital malformation characterized by unilateral chest wall dysplasia and ipsilateral upper limb abnormalities. An association between Poland syndrome and breast cancer has been reported, but no clear etiological link between Poland syndrome and breast tumors has been established. We report a case of Poland syndrome combined with breast cancer and analyzed the clinical features of breast cancer in this case and its influence on the choice of treatment for breast cancer.
    UNASSIGNED: In February 2022, we admitted a 47-year-old woman with Poland syndrome involving the right limb combined with right-sided breast cancer. After admission, the patient was given eight cycles of neoadjuvant therapy and underwent a modified radical mastectomy on September 7, 2022. Absence of right pectoralis major muscle and pectoralis minor muscle, thoracic deformity, and an adhesive band along the side of the sternum to the right axilla were observed during the operation. After surgery, the incision achieved grade-A healing, and the targeted therapy was continued for 1 year. The patient was followed up for 8 months after surgery, and the limb function of the affected side recovered well, and no obvious subcutaneous effusion, flap necrosis, upper limb edema, and other complications were observed.
    UNASSIGNED: The anatomic variation of patients with Poland syndrome has some influence on the selection of surgical methods for breast cancer, but whether it would affect the prognosis of patients is unknown. To clarify the relationship between Poland syndrome and breast cancer, we need more cases to conduct etiological studies in the future.
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  • 文章类型: Journal Article
    背景:在过去,一些出版物描述了使用对侧乳房的乳房重建技术;然而,由于技术困难,兴趣减少了,疤痕,和不良的美学结果。
    目的:本研究旨在提出一种新的乳房重建技术,该技术使用了胸胸肌皮瓣和腹部前移皮瓣的组合。
    方法:这项回顾性研究分析了使用胸肌瓣技术连续20次乳房重建的结果和并发症。
    结果:作者介绍了使用胸肌瓣进行的20次乳房重建。13例(65%)延迟乳房再造,5(25%)波兰综合征患者的乳房重建,1例(5%)胸壁肉瘤后的后遗症矫正,乳腺囊性淋巴管瘤切除术后后遗症矫正1例(5%)。一种并发症需要手术再干预而没有长期后果。在50%的病例中,结果被认为非常好,良好的45%,公平的5%。
    结论:胸肌皮瓣与腹部前移皮瓣相关是乳房重建的一个有趣的进步。在对所陈述的案例进行评估之后,我们正在考虑在目前的实践中扩大这种技术的适应度。
    BACKGROUND: In the past, several publications have described breast reconstruction techniques that utilize the contralateral breast; however, interest diminished because of technical difficulty, scarring, and poor aesthetic results.
    OBJECTIVE: This study aimed to present a new breast reconstruction technique that uses a combination of the breast-pectoralis flap and the abdominal advancement flap.
    METHODS: This retrospective study analyzed the results and complications of 20 consecutive breast reconstructions with the breast-pectoralis flap technique.
    RESULTS: The authors present a series of 20 breast reconstructions that utilized the breast-pectoralis flap. Delayed breast reconstruction was performed in 13 cases (65%), breast reconstruction in 5 patients (25%) with Poland syndrome, sequela correction after a chest wall sarcoma in 1 patient (5%), and sequela correction after breast cystic lymphangioma resection in 1 patient (5%). One complication required surgical reintervention without long-term consequences. The outcomes were considered very good in 50% of the cases, good in 45%, and fair in 5%.
    CONCLUSIONS: The combination of the breast-pectoralis flap and the abdominal advancement flap is an interesting advance in breast reconstruction. Evaluation of the presented cases suggests wider indications for this technique.
    METHODS:
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  • 文章类型: Case Reports
    波兰综合征是一种先天性解剖异常,以身体一侧部分或完全发育不全为特征,导致影响胸部的异常,肩膀,和上肢。导致这种综合症的确切机制尚不清楚,但血管形成的异常或肩胛骨下动脉及其分支在发育早期的血液供应中断可能是主要原因。根据潜在的机制,该综合征有几种表达,有些几乎无法检测到,有些甚至与生活不符。这里,我们介绍了一个案例,从辅助生殖技术(ART)周期与体外成熟(IVM)和拯救细胞质内单精子注射(ICSI),导致胎儿宫内死亡.随后的尸检显示波兰综合征的变异。
    Poland syndrome is a congenital anatomical anomaly, characterised by partial or total aplasia of one side of the body causing abnormalities affecting the chest, shoulder, and upper limb. The exact mechanism that leads to this syndrome is unknown, but an abnormality in the vasculature formation or interruption of the blood supply of the subscapular artery and its branches early in development may be the main cause. Depending on the underlying mechanism, the syndrome has several expressions with some hardly being detectable and others not even being compatible with life. Here, we present a case of pregnancy from an assisted reproductive technology (ART) cycle with in vitro maturation (IVM) and rescue intra cytoplasmic sperm injection (ICSI), which resulted in the in-utero death of the foetus. The subsequent necropsy revealed a variation of Poland syndrome.
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  • 文章类型: Case Reports
    波兰综合征是一种罕见的先天性综合征,其特征是胸大肌部分或完全单侧缺失,先天性手部畸形和胸部变形。患者通常有乳头-乳晕复合体的异常。这里,我们介绍了一例波兰综合征患者局部胸部畸形的手术治疗。
    我们观察到一个病人,一个18岁的男人.父母从出生起就注意到了胸部的变形。患者直到成年后才接受任何治疗。患者联系我们的临床研究中心以纠正胸部畸形。在临床和诊断程序之后,患者接受了外科手术:开放式胸廓成形术,并安装了线框结构。术后早期进展顺利。术后6个月评估术后早期结果。
    我们的经验表明,使用线框构造的胸廓成形术是矫正波兰综合征患者局部胸部畸形的好方法。
    UNASSIGNED: Poland syndrome is a rare congenital syndrome that is characterized by partial or complete unilateral absence of the pectoralis major muscle, congenital malformation of the hand and deformation of the chest. Often the patients has abnormalities of the nipple-areolar complex. Here, we present a case of surgical treatment of local chest deformity with patient with Poland syndrome.
    UNASSIGNED: We observed a patient, an 18-year-old man. The parents noticed the deformation of the chest from birth. The patient did not receive any treatment until adulthood. The patient contacted our clinical research center to correct chest deformity. After clinical and diagnostic procedures, the patient underwent surgical operation: open thoracoplasty with installation of a wire-frame construction. The early postoperative period was uneventful. Early postoperative outcome was assessed 6 months after surgery.
    UNASSIGNED: Our experience shows that thoracoplasty using a wire-frame construction is a good method for correcting local chest deformities in patients with Poland syndrome.
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  • 文章类型: Case Reports
    波兰综合征的主要特征是胸壁不对称。如果胸片透明度异常,临床医生应警惕胸壁和肺部的异常。
    The key feature of Poland syndrome is asymmetry in the chest wall. Clinicians should be alert to abnormalities of the chest wall as well as the lungs if there is abnormal chest radiograph lucency.
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  • 文章类型: Case Reports
    波兰综合征确实是一种罕见的先天性畸形,可表现为不同程度的胸部和同侧上肢异常。波兰综合征的典型特征包括胸大肌胸肋头的发育不全或发育不全,乳头发育不全,没有皮下脂肪,多个肋骨异常,有时是Sprengel畸形(肩胛骨抬高)。此外,还可以观察到同侧并肢(“短手指”与皮肤并肢[融合手指]的组合)。然而,重要的是要注意,并不是所有的这些发现总是存在于每一个病人,并且特征的组合可以变化很大。波兰综合征的手术治疗主要集中在改善严重胸部畸形导致的肺功能。然而,它经常与增强美容外观的额外目标进行。最近,使用脂肪来源的间充质干细胞和脂肪转移在纠正胸部缺损和隆胸方面显示出有希望的结果.在我们的研究中,我们介绍了一系列3例因与波兰综合征相关的胸部畸形而转诊至我们机构的病例。
    Poland syndrome is indeed a rare congenital malformation that can present with various degrees of thoracic and homolateral upper limb anomalies. The classic features of Poland syndrome include agenesis or hypoplasia of the sternocostal head of the pectoralis major muscle, hypoplasia of the nipple, absence of subcutaneous fat, multiple rib abnormalities, and sometimes Sprengel deformity (elevation of the scapula). Additionally, ipsilateral symbrachydactyly (combination of \"short fingers\" with cutaneous syndactyly [fused fingers]) may also be observed. However, it\'s important to note that not all of these findings are always present in every patient, and the combination of features can vary greatly. Surgical treatment for Poland syndrome primarily focuses on improving pulmonary functions resulting from severe thoracic deformities. However, it is frequently performed with the additional goal of enhancing cosmetic appearance. In recent times, the use of adipose-derived mesenchymal stem cells and fat transfer has shown promising results for correcting chest defects and breast augmentation. In our study, we present a series of 3 cases that were referred to our institution due to thoracic deformities associated with Poland syndrome.
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