Poland Syndrome Research Articles

An 8-year review of upper limb congenital differences at a teaching hospital in Jordan: A retrospective study.

To review the types of upper limb congenital differences in patients seen in a tertiary hospital in Jordan and to evaluate the effectiveness of the Oberg-Manske-Tonkin (OMT) system. The medical charts and the X-rays of 222 patients with upper limb congenital differences were reviewed. All these cases were categorized using the OMT classification system. A careful review of the medical charts identified 222 patients with 295 upper extremity anomalies. The prevalence was 45/10000 patients. The mean age of the patients was 6.18±5.5 years, with a higher prevalence in males 54.1%. most cases were malformations 176 (79%) and of these the radial polydactyly was the most common (18.5%). A total of 28 cases of dysplasia were identified. A total of 15 (6.7%) patients were diagnosed with syndromes, of which Poland syndrome showed the highest frequency at 2.3% of the total. The least presentation was for the deformation anomalies (1.4%). The malformation category constituted most of the congenital upper extremity difference in this study. Radial polydactyly was the most common in this category. Considering the regional differences, the need for a well-established healthcare infrastructure is a vital step toward managing and improving the outcomes of these patients.

Mucormycotic late seroma after Poland syndrome correction with implant-enhanced latissimus dorsi flap – A case report

Introduction. Breast malformation correction with implants is a com-mon procedure, and a potential complication is the development of a late seroma, defined as occurring more than one year post-implan-tation. Etiologies include infectious, auto-inflammatory, and neoplastic factors. This case report presents an unusual case of seroma due to mycosis emerging 15 years after amastia correction using a latissimus dorsi flap (LD) and implants. Materials and methods. In 2006, a 44-year-old patient underwent amastia correction with an LD flap and implants in Ecuador. She pre-sented with sudden breast volume increase, tension, and pain in the left breast. Urgent intervention involved implant removal, collection evacuation, and total capsulectomy. Cytological/histological analysis ruled out neoplasia, while microbiological examination identified Muco-rales as the cause. After an uneventful postoperative period, a definitive breast prosthesis was implanted two years later, following ultrasound evaluation and inflammation indices. Discussion. Mucorales are opportunistic pathogens, particularly in im-munocompromised or uncontrolled diabetes patients, causing infections in sinuses, brain, and lungs. Mucormycosis linked to breast implants in immunocompetent individuals is rare and poorly defined in literature. Conclusions. Late seroma onset post-breast implants is rare, and a prompt differential diagnosis is crucial due to potential malignancies like BIA-ALCL. Mucormycosis, a potentially lethal condition, requires medical and sometimes surgical intervention. The incidental discovery of Mucorales infection facilitated complete eradication of the patholo-gy, resulting in full recovery.

Late Presentation of Poland Syndrome: A Case Report of a 45-year-old Male with Unilateral Chest Wall Anomalies

ABSTRACT Poland syndrome (PS) is a rare congenital disorder characterized by unilateral chest wall anomalies, including the absence or underdevelopment of the pectoralis major muscle. Typically diagnosed in childhood because of visible physical deformities, cases presenting in adulthood are rare and present unique diagnostic challenges. We report the case of a 45-year-old male with longstanding but progressively concerning asymmetry of the chest wall. The patient, who had noticed mild differences since childhood, sought medical evaluation due to increased discomfort. Physical examination revealed the absence of the sternal head of the right pectoralis major muscle. Imaging studies, including chest X-ray and computed tomography, confirmed the diagnosis of PS. This case highlights the variability in the presentation of PS and the potential for delayed diagnosis in adulthood. The rarity of late presentations underscores the need for clinicians to consider PS in the differential diagnosis of unilateral chest wall anomalies, even in adult patients. Management strategies are discussed, emphasizing the importance of a multidisciplinary approach, including surgical intervention and physiotherapy tailored to the patient’s specific functional and esthetic needs. PS can present later in life, and increased awareness among health-care providers is essential for timely diagnosis and management. Addressing functional and cosmetic concerns through a personalized treatment plan can significantly enhance patient outcomes and quality of life.

Angelman syndrome in Poland: current diagnosis and therapy status—the caregiver perspective: a questionnaire study

BackgroundAngelman syndrome (AS) is a rare neurodevelopmental disease caused by imprinting disorders that impede the production of the ubiquitin E3A ligase protein (UBE3A). AS affects multiple systems, with the main symptoms including epilepsy, psychomotor disorders and speech development disorders. To date, no study has been conducted in the Polish population to verify the condition's diagnosis and treatment process.ResultsSeventy patients with the median age of 60 months were included into the analysis. 80% of patients were diagnosed with deletion, 19.9% with a mutation of UBE3A gene, 4.3% with paternal uniparental disomy (UPD) and 2.8% with an imprinting defect. The mean age of first symptoms was 5 months, while the mean age of diagnosis was 29 months (earliest in deletion group at 23 months), and the median duration of diagnosis process was 7 months. The average time to a clinical geneticist appointment was 3 months. 37.9% of the patients initially received a different diagnosis. Epileptic seizures were present in 88.6% of the individuals. 98.6% of the studied group were under care of a pediatric neurologist, 47.1% of a gastroenterologist. A ketogenic diet was used in 7.1% of patients. Caregivers identified finding a specialist suitable for AS patients and access to genetic testing as the biggest problems.ConclusionsThe care of patients with AS in Poland is carried out according to the European and world standards, however there is an impeded access to clinical geneticist, and the knowledge about rare diseases among primary healthcare physicians could be improved. Moreover, access to AS care specialists and coordination of care is limited. There is a need for creation a specialized centers and databases for AS patients.

Consultations for Poland Syndrome: The Essentials for a Thoracic Surgeon.

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.

The role of 3D printing in chest wall reconstruction.

Technology is advancing fast, and chest wall surgery finds particular benefit in the broader availability of three-dimensional (3D) reconstruction and printing. An increasing number of reports are being published on the use of these resources in virtual 3D reconstructions of chest walls in computed tomography (CT) scans, virtual surgeries, 3D printing of real-size models for surgical planning, practice, and education, and of note, the manufacture of customized 3D printed implants, changing the fundamental conception from a surgery that fits all, to a surgery for each patient. In this review, we explore the evidence published on simple chest wall reconstruction, including the use of 3D technology to assist in the improvement of the repair of the most frequent chest wall deformities: pectus excavatum and carinatum. Current studies are oriented to the automatization and customization of transthoracic implants, as well as education on real-size models. Next, we investigate the implementation of 3D printing in the repair of complex chest wall reconstruction, comprised of infrequent chest wall deformities such as pectus arcuatum and Poland syndrome. These malformations are very heterogeneous resulting in a high degree of improvisation during the surgical repair. In this setting, 3D technology plays a role in the standardization of a process that contemplates customization, concepts that may seem contradictory. Finally, 3D printing with biocompatible materials is rapidly becoming the first choice for the reconstruction of wide chest wall oncological resections. In this work, we review the first and most important current publications on the subject.

Poland Syndrome and the Sensorimotor Cortex: An Untapped Possibility for Research

Poland Syndrome and the Sensorimotor Cortex: An Untapped Possibility for Research

Poland syndrome: a case report

Poland syndrome is characterized by the absence or hypoplasia of other chest muscles: small pectoral muscle, anterior tightened muscle, grandorsal muscle, and deltoid muscle. Anomalies of the thoracic cage: agenesis or hypoplasia of one or more costal segments, pectus carinatum, excavatum, clavicular hypoplasia, pulmonary herniation. Abnormalities of the mammary region: agenesis or hypoplasia of the breast, areola and nipple. The reported incidence of Poland’s syndrome ranges from 1 in 7,000 to 1 in 100,000. Males are affected more frequently by a 2:1 to 3:1 ratio Poland’s syndrome has also been diagnosed in 1 of 19,000 mammograms. The right side of the body was found to be involved in 60% to 75% of patients - associated malformations: genitourinary malformations, cardiac malformation, hepatic and biliary tract malformations. Case report Our case involves a 7-month-old boy with no medical history of cardiac or respiratory complaints. This is a male child with around 65cm height, and 7kg weight. There is no family history of consanguineous marriage and no family history of congenital anomalies. All siblings are alive and healthy. The child’s milestones are within normal limits. There is aplasia of the right sternocostal head and clavicular heads and abdominal head of the pectoralis major muscle, there is a hypoplasia of the right nipple and breast and absence of subcutaneous fat on the same side. Ribs are visible on the right chest wall. Physical examination shows no history of hand and digit anomaly and no rib anomalies. Chest wall asymmetry with right chest wall showing depression on axillary floor. The anterior axillary fold is absent. On attempting abduction of the shoulder, it shows the absence of the sternocostal head of the pectoralis major.

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

Pathogenic variants in NOTCH1 are associated with non-syndromic congenital heart disease (CHD) and Adams-Oliver syndrome (AOS). The clinical presentation of individuals with damaging NOTCH1 variants is characterized by variable expressivity and incomplete penetrance; however, data on systematic phenotypic characterization are limited. We report the genotype and phenotype of a cohort of 33 individuals (20 females, 13 males; median age 23.4 years, range 2.5-68.3 years) from 11 families with causative NOTCH1 variants (9 inherited, 2 de novo; 9 novel), ascertained from a proband with CHD. We describe the cardiac and extracardiac anomalies identified in these 33 individuals, only four of whom met criteria for AOS. The most common CHD identified was tetralogy of Fallot, though various left- and right-sided lesions and septal defects were also present. Extracardiac anomalies identified include cutis aplasia (5/33), cutaneous vascular anomalies (7/33), vascular anomalies of the central nervous system (2/10), Poland anomaly (1/33), pulmonary hypertension (2/33), and structural brain anomalies (3/14). Identification of these findings in a cardiac proband cohort supports NOTCH1-associated CHD and NOTCH1-associated AOS lying on a phenotypic continuum. Our findings also support (1) Broad indications for NOTCH1 molecular testing (any familial CHD, simplex tetralogy of Fallot or hypoplastic left heart); (2) Cascade testing in all at-risk relatives; and (3) A thorough physical exam, in addition to cardiac, brain (structural and vascular), abdominal, and ophthalmologic imaging, in all gene-positive individuals. This information is important for guiding the medical management of these individuals, particularly given the high prevalence of NOTCH1 variants in the CHD population.

PP-029 Poland syndrome manisfesting as defective pectoralis major muscle and dextroscoliosis: a case report

PP-029 Poland syndrome manisfesting as defective pectoralis major muscle and dextroscoliosis: a case report

The Breast-Pectoralis Flap: A New Advance in Autologous Breast Reconstruction-A Preliminary Report on 20 Cases.

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. This study aimed to present a new breast reconstruction technique that uses a combination of the breast-pectoralis flap and the abdominal advancement flap. This retrospective study analyzed the results and complications of 20 consecutive breast reconstructions with the breast-pectoralis flap technique. 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%. 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.

The impact of lifestyle, measured with the HLPCQ questionnaire on the prevalence of metabolic syndrome in Poland: a multicenter study

Metabolic syndrome is one of the most common health problems for people around the world. The aim of our study was to assess the prevalence of metabolic syndrome among adults without prior diagnosis of cardiovascular disease, diabetes, and chronic kidney disease. We also plan to assess the influence of certain lifestyle components on prevalence of metabolic syndrome. The study involved cardiovascularly healthy patients undergoing lab tests, measurements, and the HLPCQ questionnaire (The Healthy Lifestyle and Personal Control Questionnaire). The data were used to diagnose metabolic syndrome. Out of 1044 patients from 10 primary care facilities, 23.3% met the metabolic syndrome criteria, showing a strong link with increased blood pressure, cholesterol, and fasting glucose. Lower scores in the Organized physical exercise subscale of the HLPCQ questionnaire were noted in those with metabolic syndrome. Comparing the subscale of HLPCQ questionnaire, the lower results in Organized physical exercise subscale were found among the participants with metabolic syndrome, both male and females. Metabolic syndrome, a significant risk factor for cardiovascular disease, should be screened for actively, even in apparently healthy populations. Results obtained in our study from analysis of HLPCQ show that screening for metabolic syndrome should be preceded by prevention based on regular physical activity and proper eating habits.

Poland–Mebius syndrome: A clinical case and review of the literature

BACKGROUND: Currently, the eponym “Poland syndrome” has become a universal term for clinicians for all pectoral muscle developmental disorders with symbrachydactyly and without. Misinterpretation of the diagnosis in patients with pectoral muscle underdevelopment can narrow the diagnostic search, making it difficult to genetically verify the diagnosis. Thus, this study was conducted.
 CLINICAL CASE: We present the results of our clinical observation of a 17-year-old adolescent with complaints of restricted movement in the joints of the right hand, right shoulder joint, shortening of the right upper extremity, and chest wall deformity. Orthopedic examination and computed tomography indicated the presence of Poland syndrome, severe Sprengel’s deformity (soft tissue form), severe left-sided keel chest deformity, kyphoscoliosis of the thoracic spine, and Scheiermann–Mau disease. The focal neurological symptoms and associated structural and functional changes in the medulla oblongata were characteristic of the extended Mebius syndrome.
 DISCUSSION: Modern hypotheses of pathogenesis, clinical features, and possibilities of diagnostics of this syndrome are considered.
 CONCLUSIONS: The variety of clinical manifestations of the Poland–Mebius syndrome and the current lack of clear genetic markers for both the Mebius syndrome and Poland syndrome hindered the establishment of a consensus among researchers, that is, whether the Poland–Mebius syndrome is an independent disease or a group of individual phenotypic features that are components of previously known syndromes. Further molecular genetic studies may provide a basis for the designation of Poland–Mebius syndrome as a separate entity.

Poland Syndrome: A Historical Vignette

Poland Syndrome: A Historical Vignette

Middle-aged Man with Deformities, Discomfort in the Chest, and Dextrocardia

ABSTRACT Congenital birth defects of brachy/polysyndactyly class can occur as isolated defects or as a part of syndromes and should raise suspicion of associated heart defects. Poland syndrome is one such congenital condition with its characteristic features. Although rare, it can significantly impact a patient’s quality of life due to its physical and psychological effects. This case report aims to contribute to the limited body of literature by detailing the clinical presentation, diagnosis, and cardiac defects associated with Poland’s syndrome.

POLAND SYNDROME: A CASE REPORT

Poland syndrome is a rare but serious condition that can affect a child's development and quality of life. Understanding the clinical features of this syndrome and the risk factors that can cause it is essential for timely diagnosis and treatment. However, there is currently a limited number of scientific studies on this pathological condition, so further research in this area is relevant and requires attention. The aim of the study was to review the literature, clinical features of Poland syndrome in a child and to analyse the risk factors that can lead to the onset of this condition.Results of the study. Premature placental abruption is a condition in which the placenta, an organ that forms during pregnancy to provide nutrition and oxygen to the fetus, detaches from the uterine wall before the onset of labour. It disrupts the balance between the forces of the uterine and fetal muscles, which can lead to thrombosis, bleeding and other complications for both mother and fetus. This condition can be observed in any trimester of pregnancy and requires the attention of doctors for timely diagnosis and treatment. Poland syndrome is a congenital anomaly characterised by chest and muscle defects, as well as other developmental defects. According to the Foucras classification, there are three or four degrees of severity, depending on the level of asymmetry and deformation of the chest. Hypoplasia of the chest muscles, cardiovascular anomalies, hand and finger abnormalities are among the complications that can accompany CP. A clinical study revealed severe chest asymmetry and motor disorders in a child diagnosed with Poland syndrome (incomplete form). The risk factors for premature placental abruption in the mother were a history of previous pregnancy complications and a viral urogenital infection.Conclusions. Studying the clinical features of Poland syndrome and the risk factors leading to its occurrence is important for the timely diagnosis and treatment of this condition in children. Understanding these aspects can help improve the quality of life of patients and prevent complications.

Poland syndrome Ó? Atypical neonatal presentation

Poland syndrome Ó? Atypical neonatal presentation

Musculoskeletal and tendinous details of selected anomalies in the locomotor system of anurans.

Previous studies on anuran anomalies predominantly examine isolated cases or focus on external and skeletal features. Our study analyzes a comprehensive sample collected from 1991 to 2017, examining the muscle-tendon system in 24 anuran species across adult, juvenile, and metamorphic stages. This extensive sample size allows us to investigate consistent anomaly patterns across different developmental stages and anuran families, exploring potential common developmental or genetic factors. Our detailed anatomical examination, encompassing musculature, tendons, and skeletal structures, revealed that 21% of the specimens displayed anomalies, a noteworthy finding considering the extensive sample size and duration of the studied sample. Of these anomalies, 17% affected the locomotor system, predominantly in the upper limbs. Key anomalies included, forelimbs and hindlimbs brachydactyly, rotation in forelimbs, partial kyphotic lordosis, and scoliosis. Notably, the digit 4 in the forelimbs and digits 4 and 5 in the hindlimbs were particularly susceptible to teratogenic effects, indicating possible prolonged exposure during development. Our study also uncovered combinations of anomalies and identified a phenotype similar to Poland syndrome. The findings validate the "Logic of Monsters" (LoMo theory) by Alberch, although the name itself may not be deemed appropriate, showing that developmental disruptions in tetrapods are not random but follow distinct sequences and patterns. The name, while unfortunate, accurately reflects the unusual nature of these developmental anomalies. This contributes to the evolving "Evo-Devo-Path" framework, highlighting the study's importance in understanding developmental disruptions in tetrapods.

Poland syndrome: A case of difficult weaning of ventilation after surgery

IntroductionPoland syndrome is a rare congenital anomaly that occurs in 1 in 30,000 children. It is characterised by unilateral underdevelopment or lack of the chest wall muscle that is apparent at birth. Rarely is it discovered to involve a bilateral chest muscular deficit. Poland syndrome presents in a wide variety of ways, which can often make diagnosis challenging.AimWe would like to highlight the rarity of Poland syndrome, and the challenges of post-operative recovery, primarily the ventilation.Case studyWe presented a case of a 44-year-old female with non-investigated chest wall deformity, whom required emergency surgical intervention under general anaesthesia. Post-operatively, she required prolonged ventilatory support, and was then diagnosed with Poland syndrome.Results and discussionThe patient had undergone an emergency laparotomy and left lateral hepatectomy for left hepatolithiasis with liver abscess. Post-operation, she required prolonged ventilation, with gradual weaning of oxygen. Imaging studies showed absence of left pectoralis major, thus a diagnosis of Poland syndrome. Gradually she was weaned off and had a successful post operative recovery.ConclusionsPoland syndrome is a rare congenital abnormality. In patients undergoing general anaesthesia, the normal mechanics of breathing while ventilated are absent. Their recovery is longer and requires prolonged ICU admission.

Left-sided Poland Syndrome Presenting as Chronic Respiratory Symptoms without Hand Deformity: A Rare Case Report

Left-sided Poland Syndrome Presenting as Chronic Respiratory Symptoms without Hand Deformity: A Rare Case Report