Poland Syndrome and Multimorbidity in a 79-Year-Old Male.

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.

Poland syndrome combined with breast cancer: a case report.

Background: 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. Case Description: 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. Conclusions: 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.

Surgical Treatment of Chest Deformity in a Patient with Poland Syndrome. Clinical Case Report.

Introduction: 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. Case Presentation: 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. Conclusion: Our experience shows that thoracoplasty using a wire-frame construction is a good method for correcting local chest deformities in patients with Poland syndrome.

Poland Syndrome in a Pregnancy From an Assisted Reproductive Technology (ART) Cycle With In Vitro Maturation (IVM) and Rescue Intracytoplasmic Sperm Injection (ICSI).

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.

Asimetría escapular por agenesia congénita de trapecio unilateral: a propósito de un caso / Case report: Scapular asymmetry caused by congenital unilateral absence of trapezius

La agenesia completa unilateral de trapecio es una afección infrecuente, reportada anteriormente en la literatura tras su hallazgo en muestras cadavéricas. Afecta a la estática, biomecánica y funcionalidad de la cintura escapular, por lo que es especialmente importante realizar una exhaustiva exploración física del paciente en consulta para descartarla o sospecharla. Presentamos el caso de un niño de 8 años con asimetría de la cintura escapular y escápula alada, remitido a la consulta de Rehabilitación por sospecha de distrofia facioescapulohumeral. La RM confirmó la agenesia de músculo trapecio derecho. No había alteración de la funcionalidad en el paciente. No se encontraron otras anomalías congénitas.(AU)

Congenital unilateral absence of trapezius is a rare condition, previously reported in cadaveric specimens. It can cause static shoulder asymmetry and affects the scapular biomechanics and functionality, so complete physical examination of the patient becomes important in order to dimiss or suspect an anomaly.We present a case of a 8 years old boy with asymmetry and scapular winging, who was referred to rehabilitation, suspected facioscapulohumeral dystrophy. An MRI scan of cervical spine and shoulder confirmed the absence of the right trapezius muscle. There were no functional disabilities. No other significant congenital anomalies were found.(AU)

A pitfall in chest imaging.

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.

[Case report: Scapular asymmetry caused by congenital unilateral absence of trapezius]. / Asimetría escapular por agenesia congénita de trapecio unilateral: a propósito de un caso.

Congenital unilateral absence of trapezius is a rare condition, previously reported in cadaveric specimens. It can cause static shoulder asymmetry and affects the scapular biomechanics and functionality, so complete physical examination of the patient becomes important in order to dimiss or suspect an anomaly. We present a case of a 8 years old boy with asymmetry and scapular winging, who was referred to rehabilitation, suspected facioscapulohumeral dystrophy. An MRI scan of cervical spine and shoulder confirmed the absence of the right trapezius muscle. There were no functional disabilities. No other significant congenital anomalies were found.

Clinical and Radiological Features in Poland Syndrome: Report of 3 Cases and Review of Literature.

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.

Moebius Syndrome: An Updated Review of Literature.

Moebius Syndrome, is a rare, non-progressive congenital neuropathological syndrome characterized primarily by the underdevelopment of the facial (CN VII) and abducens nerve (CN VI). Other features of Moebius Syndrome include facial nerve paresis, ophthalmoplegias, orthodontic deficiencies (including crowded dentition, swollen and hyperplastic gingiva, dental calculus, etc.), musculoskeletal abnormalities, and impaired mental function. Due to the rarity of the disorder, very few case studies have been reported in the literature. This article summarizes the significant features of the disease according to commonalities in reported cases, along with several newly recognized features cited in recent literature. We have explored the different diagnostic criteria and the newly recognized imaging modalities that may be used. Understandably, the condition detrimentally affects a patient's quality of life; thus, treatment measures have also been outlined. This study aims to provide updated literature on Moebius Syndrome MBS and improve understanding of the condition.

Type 3A Symbrachydactyly in a Newborn Female: A Case Report.

Symbrachydactyly is a complex and rare congenital hand deformity characterized by missing or underdeveloped fingers and rudimentary digit nubbins. This case report focuses on a newborn female with type 3A symbrachydactyly, highlighting the unique clinical presentation, diagnostic assessment, and initial management approach. The rarity of this condition underscores the need for sharing cases to enhance understanding and treatment strategies. Various classification systems exist, contributing to the challenge of accurately categorizing symbrachydactyly. Surgical interventions play a crucial role in restoring hand function and appearance, with treatment choices tailored to individual evaluation and goals. Early surgical intervention is often necessary to improve outcomes, and nonvascularized toe phalangeal transfers have shown promising results. Further research is required to uncover the underlying cause and pathogenesis of symbrachydactyly, enabling more targeted and effective treatment approaches. This case report contributes to the existing knowledge and management of this uncommon congenital anomaly, emphasizing the importance of sharing and studying such cases for improved patient care.

Management of Axillary Contracture in Poland Syndrome: Differentiating Fibrous Band and Skin for Optimal Release.

Poland syndrome (PS), an uncommon congenital unilateral aplasia of chest wall muscles, may exhibit rare accompanying signs, such as axillary webbing or contractures. The existing literature on the specific management of axillary contractures is limited. In this report, we present the case of a 10-year-old girl with PS manifesting an axillary web containing a fibrous band, which was successfully surgically corrected by a double-opposing Z-plasty. Our surgical approach entailed a meticulous distinction between the deep fibrous band and the superficial cutaneous layer, guided by histopathological findings that indicated the presence of tendon-like tissue, ultimately yielding excellent outcomes. This report will help expand knowledge by highlighting the unique manifestation of PS and emphasizing the importance of employing appropriate treatment approaches. Moreover, addressing both tendon and skin components is essential for optimal contracture release in PS.

Diagnostic value of high-frequency ultrasound for Poland syndrome.

BACKGROUND: The imaging diagnosis of Poland syndrome is mostly computed tomography (CT) or magnetic resonance imaging (MRI), whereas high-frequency ultrasound for the diagnosis of Poland syndrome is relatively rare. PURPOSE: To investigate the diagnostic value of high-frequency ultrasound for Poland syndrome. MATERIAL AND METHODS: A retrospective analysis of 15 patients diagnosed with Poland syndrome was performed, and the characteristics of ultrasound images were summarized. RESULTS: High-frequency ultrasound clearly depict the anatomical structures of each layer of the chest wall in patients with Poland syndrome. Ultrasonography mainly showed partial or total absence of the pectoralis major muscle on the affected side, and some of which were combined with the absence of the pectoralis minor muscle. The difference was statistically significant in the thickness of the affected chest wall compared with the healthy side (P < 0.01). Out of 15 cases with Poland syndrome, 11 were associated with ipsilateral brachydactyly or syndactyly, and high-frequency ultrasonography showed that the bifurcation position of the common palmar digital artery on the affected finger was lower than that on the healthy side. CONCLUSION: High-frequency ultrasound is an effective imaging method for the diagnosis of Poland syndrome.

Transient Ischemic Attack in a Patient With Poland Syndrome With Dextrocardia.

This report discusses the case of a patient with a past medical history of Poland syndrome and dextrocardia who was admitted for a transient ischemic attack. Poland syndrome is a rare genetic condition characterized by underdevelopment of chest wall musculature that presents with a variety of associations that may or may not be present in each case. This case report intends to discuss a unique presentation of Poland syndrome with dextrocardia, one of the rare conditions associated with Poland syndrome, as well as the treatment of Poland syndrome as a whole and possible associated complications.

Hemiatrophy-hemiparkinsonism and Poland syndrome: A causative or coincidental association?

Despite various neurologic symptoms of Poland syndrome (PS), parkinsonism was never reported in PS, and the response to the treatment of parkinsonism was not studied before. We report a case of ipsilateral parkinsonism in PS, similar to hemiatrophy-hemiparkinsonism, with a good response to levodopa and subthalamic deep brain stimulation.

Incidental finding of Poland syndrome in a case of phimosis: a rare case report from Nepal.

Poland syndrome is a rare congenital syndrome that mostly includes the absence of unilateral pectoralis major muscle and digit anomalies like symbrachydactyly. It can also present with other varied manifestations like the absence of ribs, bilateral absence of pectoralis major muscle, urogenital anomalies, dextrocardia, etc. Case Presentation: We herein present a case of a 6-year-old boy with Poland syndrome as an incidental finding, the second one reported from Nepal, 11 years after the first report. The syndrome was diagnosed after the patient came to the hospital for treatment of phimosis. On examination, the sternocostal head of the right pectoralis major muscle was absent with a palpable clavicular head with symbrachydactyly of the ipsilateral side. Discussion: Poland syndrome is mostly diagnosed clinically. Its differential diagnosis includes other chest wall anomalies, nipple anomalies, isolated thoracic lipoatrophy, and isolated hand/upper limb anomalies without pectoralis major muscle involvement. Computed tomography and MRI scans can help delineate the exact chest wall abnormality. It also helps to find other manifestations of the syndrome and for the treatment plans. Conclusion: Poland syndrome is a rare syndrome that has the propensity to be missed in clinical settings. Treatment, mainly sought for cosmetic reasons, includes breast augmentation procedures or myocutaneous flap coverage.

A rare coexistence: Poland's syndrome and cardiac angiosarcoma.

Poland's syndrome, a rare genetic disorder that accompanies malignancies, musculoskeletal disorders, cardiac and genitourinary syndromes. There is no study that represents the association between cardiac angiosarcoma and Poland's syndrome. A 24-year-old female patient previously diagnosed with Poland's syndrome was admitted to our hospital complaining of dyspnea. Diagnostic imaging showed an irregular mass in the right atrial cavity. After successful surgery, she was discharged uneventfully and the 3rd month oncologic follow-up reveals none of residual mass. The coexistence has not been diagnosed and treated in a cardiac surgery department before. With this presentation, we aimed to contribute to the literature with this presentation, for the right and early diagnosis and management of possible new cases in the future can be diagnosed and treated correctly and early.

Body Self-Perception After Breast Reconstruction in Young Female Patients Affected by Poland Syndrome.

BACKGROUND: Cosmetic and social aspects of breast anomalies in Poland syndrome are not negligible. Early diagnosis and appropriate therapeutic timing may have a positive impact on quality of life. METHODS: Females affected by Poland syndrome, who had breast reconstruction between 2014 and 2018, were asked to complete the Body Uneasiness Test and the postoperative Breast-Q. Correlation between scores was evaluated. Correlation between scores was statistically evaluated. RESULTS: Thirty patients who had completed breast reconstruction at 20.9 ± 6.5 yo fulfilled the questionnaires at the average age of 26.5 ± 8.1 yo. BUT scores were similar to healthy population considering different age groups, with the exception of Compulsive Self-Monitoring subscale for 16-17-year age group. A correlation between Depersonalization and "Thighs" and "Legs" was present. On average, satisfaction with breast resulted 79.1%, satisfaction with surgical outcome was 94.9%, psychosocial well-being was 78.5%, sexual well-being was 75.3%, and relative physical well-being in chest and upper body was 36.9%. Global Uneasiness, Avoidance, Weight Phobia, Body Image Concern and Depersonalization were significantly correlated with lower psychosocial well-being. Avoidance was significantly correlated with lower sexual well-being. CONCLUSIONS: Breast reconstruction in Poland syndrome can help to improve quality of life. However, general body uneasiness can affect satisfaction with the final result. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors http://www.springer.com/00266 .

Untrapped: bilateral hypoplasia of the trapezius muscle.

Agenesis or congenital hypoplasia of skeletal muscles occurs infrequently but may occur with specific conditions such as Poland syndrome. The trapezius muscle can vary in the extent of its bony attachments or may have additional slips, however congenital absence or hypoplasia is extremely rare. There are only a few reports of partial or complete absence of the trapezius muscle. Two cases of bilateral absence of the trapezius were both in males and were accompanied by the absence of additional muscle in the pectoral girdle. Herein, we describe a case of a 56-year-old male cadaver with bilateral hypoplasia of the trapezius. The muscle was largely represented by atrophied muscle fibers with an abundance of fibrotic or fatty connective tissue. This subject had very minor hypoplasia of the left pectoralis major muscle, but the remaining muscles of the pectoral girdle were normal. The spinal accessory nerve terminated in the sternocleidomastoid muscle on both sides, failing to reach the trapezius. We interpret these findings to be consistent with a minor variant of Poland syndrome.