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

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. OBJECTIVES: 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.

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.

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.

Prenatal diagnosis of Poland-Möbius syndrome by multimodality fetal imaging.

We describe prenatal diagnosis of Poland-Möbius syndrome using a combination of ultrasound and MRI. Poland syndrome was diagnosed based on absence of the pectoralis muscles associated with dextroposition of the fetal heart and elevation of the left diaphragm. Associated brain anomalies that led to the diagnosis of Poland-Möbius syndrome, included ventriculomegaly, hypoplastic cerebellum, tectal beaking, and a peculiar flattening of the posterior aspect of the pons and medulla oblongata, which has been reported by postnatal diffusion tensor imaging studies as a reliable neuroimaging marker for Möbius syndrome. Since abnormalities of cranial nerves VI and VII may be difficult to detect prenatally, careful attention to the appearance of the brain stem as illustrated in the current report may aid in the prenatal diagnosis of Möbius syndrome.

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 .

Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.

BACKGROUND: Möbius (Moebius) and Poland's syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6th and 7th cranial nerves and hypoplasia of the pectoral muscles associated with chest wall and upper limb anomalies respectively. Manifest simultaneously as Poland-Möbius (Poland-Moebius) syndrome, debate continues as to whether this is a distinct nosological entity or represents phenotypic variation as part of a spectrum of disorders of rhomboencephalic development. Etiological hypotheses implicate both genetic and environmental factors. The PLXND1 gene codes for a protein expressed in the fetal central nervous system and vascular endothelium and is thus involved in embryonic neurogenesis and vasculogenesis. It is located at chromosome region 3q21-q22, a locus of interest for Möbius syndrome. CASE PRESENTATION: We present the first report of a patient with Poland-Möbius syndrome and a mutation in the PLXND1 gene. A child with Poland-Möbius syndrome and a maternally inherited missense variant (NM_015103.2:ex14:c.2890G > Ap.V964M) in the PLXND1 gene is described. In order to contextualize these findings, the literature was examined to identify other confirmed cases of Poland-Möbius syndrome for which genetic data were available. Fourteen additional cases of Poland-Möbius syndrome with genetic studies are described in the literature. None implicated the PLXND1 gene which has previously been implicated in isolated Möbius syndrome. CONCLUSIONS: This report provides further evidence in support of a role for PLXND1 mutations in Möbius syndrome and reasserts the nosological link between Möbius and Poland's syndromes. LEVEL OF EVIDENCE: Level V, Descriptive Study.

[Poland's syndrome]. / Syndrome de Poland.

Breast and thoracic deformities of Poland syndrome is a rare malformation known to be difficult to treat. Numerous descriptions of surgical corrections have been published but none achieved to correct severe cases before description of lipomodeling technique. The aim of this article is to present thoraco-mammary deformity of Poland syndrome, corrections techniques already available and therapeutical indications in primary and secondary cases. Constant anomaly of Poland syndrome is agenesis of sterno-costal part of pectoralis major muscle but other muscular anomalies can be associated. Skin and glandular anomalies present with a fine skin and an absent or hypoplasic subcutaneous fat with a glandular hypoplasia of various degree. Osteo-cartilaginous anomalies can be associated in very severe cases. Clinical sign of Poland syndrome is forced adduction manoeuvre highlighting pectoralis major agenesis. Functional impact of the deformity is low but psychological and psychosocial implications can be very important, supporting an early surgical correction. Therapeutic means are various and accurate descriptions are given in this article: thoracic bony reconstruction, thoracic implant made of silicone elastomer, breast implant, skin expansion, latissimus dorsi pedicled flap, free flaps, breast lipomodeling, Breast-pectoralis flap. Principles of each technique are described and balanced with their actual use in this malformation. Indications have been completely modified these last years due to lipomodeling contribution which represented a huge step in this deformity treatment. In our practice, if autologous reconstruction with lipomodeling is possible, we choose this solution at first. In case of severe thoracic deformity, a silicone elastomer implant made with the help of computed assisted conception can be an important adjunct, mainly by thin young man. In secondary cases, if implant is well tolerated, we found logical to stay in the same reconstruction path and do one or two sessions of lipomodeling in order to improve reconstruction. If implant tolerance is low and skin very thin at risk of exposure, we do recommend a conversion of implant reconstruction to autologous reconstruction. In conclusion, thoraco-mammary deformities of Poland syndrome are rare and hard to treat and should be managed by well trained and experimented surgeons. Breast lipomodeling is a huge step in the treatment of these deformities and should be regarded, in our opinion, as first line treatment if fat deposits are sufficient. In case of low fat provisions or in the thin young man, composite techniques should be used with silicone elastomer implant.

[Congenital thoracic deformities and 3D custom-made implants. New classification based on a series of 789 treated cases]. / Malformations thoraciques congénitales et implants sur mesure 3D. Nouvelle classification basée sur une série de 789 cas traités.

The authors present a new study on 789 cases of congenital thoracic malformations including 638 pectus excavatum and 151 Poland syndromes, according to a new classification which completes Chin's one. All these malformations were treated with silicone elastomer implants. The contribution of computer-aided design and manufacturing (CAD/CAM) since 2008 is essential. The one-stage surgical protocol is precisely described. The results are impressive, permanent, for life, and complications are rare. The authors evoke a common vascular etiopathogenesis theory at the embryonic stage and question the heavy techniques of invasive remodeling that are most often unjustified.

[Lipomodeling for congenital breast deformities: Technique, results and indications]. / Place des transferts graisseux dans les malformations des seins et du thorax.

Congenital breast deformities usually occur during adolescence and can disturb the self-development and affect the identity during this crucial stage. Several surgical techniques are now available to correct these different anomalies. The objective is to clarify the place of lipomodeling in thoraco-mammary malformations, resuming the different indications, the results, as well as the limits and potential complications. The adipose tissue was harvested by soft aspiration as to reduce adipocyte trauma and using a syringe fitted with a 3.5mm cannula. After centrifugation, fat was reinjected retrogradely and by making thin cylinders of fat similar to "spaghetti". Moderate to severe asymmetry is one of the best indications for lipomodeling using one or two sessions. Thus, a perfect and lasting symmetry is achieved, without the need of an implant, which would inevitably leads to asymmetry because of a dissimilar evolution of the breast all over the time. In Becker's nevus syndrome, lipomodeling has also been performant in bluring the hyperpigmentation of the nevus. The role of lipomodeling in pectus excavatum deformity (antero-posterior sternocostal depression) is also crucial. Lipomodeling can be used alone, or in combination with a rigid customed silicone implant. Tuberous breasts include various anomalies. Lipomodeling is currently used especially when the anomaly is unilateral (2 fat graft sessions are usually needed). Fasciotomies are frequently performed too. Lipomodeling is a real revolution in the management of Poland syndrome (anomaly characterized by the unilateral lack of the pectoralis major muscle, more or less associated with other ipsilateral anomalies). On average, 3 to 5 sessions are necessary to obtain a suitable symmetry. Lipomodeling is very unlikely to cause major surgical complications. Cytosteatonecrosis nodules mainly occur with novice practitioner and decrease as they become more experienced. However, the principle of the three-dimensional network, and the phenomenon of tissue saturation of the recipient site should be respected. The main limitation of lipomodeling is directly related to the amount of fat available. That's why it is very important to evaluate it during the first clinical consultation, and to carefully select the patients eligible in order to limit the risk of failure. Lipomodeling of congenital breast anomalies is a technique well established, with a precise algorithm to follow, and is a procedure with low surgical risk, less scarring, cosmetic and lasting results. This technique is to be suggested as a first line treatment in all indications of congenital breast deformities, alone or combined to an implant. Therefore, it seems essential that a plastic surgeon fully master the indications and the use of fat tissue transfer procedure, in order to obtain natural and harmonious results.

[Breasts and congenital chest-wall deformities: Surgical strategy with 3D implants]. / Le sein et les malformations thoraciques : stratégie chirurgicale et implants.

Computer-aided design and manufacturing of custom-made elastomer implants leads from a CT scan to fill in with precision, a congenital chest wall congenital deformity, both bone (pectus excavatum) and muscle (Poland Syndrome), resulting in a natural repositioning of the breasts. We report our 25 years' experience in 301 women (234 Pectus+64 Poland). Parietal correction must always be done in first intention. It is common to have to carry out a second stage in women with an additional mammaplasty especially in the presence of insufficient glandular volume or a fairly frequently associated tuberous breast.

Levels of 137Cs in game and soil in Opole Anomaly, Poland in 2012-2020.

Once deposited, radiocesium remains in the environment for a long time, and constantly enters the food chain. Over time, game species tend to accumulate 137Cs by two orders of magnitude more than farm animals. This occurs especially in places heavily contaminated, thus meat products made out of local game should be treated with caution. One of such areas, known as the Opole Anomaly, is located in South-Western Poland and represents one of most 137Cs contaminated regions across Europe after the Chernobyl accident. The aim of the study was to find out the 137Cs activity in soil and local game, the value of the soil-to-game aggregated transfer factor and to assess the effective dose of the ionising radiation (Eeff) received by consumers of local game meat in years 2012-2019. We examined meat of three common game species: red deer, roe deer and wild boar for 137Cs activity. 137Cs activity in meat samples ranged from 0.14 to 592 Bq kg-1. The aggregated transfer factor (Tag) in game ranged from 0.006 to 0.01 m2 kg-1 f.w. for wild boar, 0.005-0.008 m2 kg-1 f.w. for roe deer, and 0.003-0.004 m2 kg-1 f.w. for red deer. The effective dose received by people who regularly consume local game meat ranged from less than 14.2 µSv y-1 to 134 µSv y-1, depending on the amount of differently contaminated game meat consumed annually. Even those for whom game is the only source of meat, consumption of wild boar along with local mushrooms and bilberries will, since 2012, not exceed the regulation limit of 137Cs at the level of 1 mSv y-1. By the best of our knowledge this is the first study regarding 137Cs activity in game and risk assessment from the most contaminated "post-Chernobyl" area in Poland.

Rare concurrent ocular myasthenia gravis and Graves' ophthalmopathy in a man with Poland syndrome: a case report.

BACKGROUND: Ocular myasthenia gravis and Graves' ophthalmopathy are autoimmune diseases that are mediated by membrane receptors and share many identical clinical processes. Poland syndrome is a rare congenital deformity characterized by defects of the ipsilateral hand and the chest wall, and it is usually associated with hypoplasia of ipsilateral pectoral muscles and homolateral breast. However, to the best of our knowledge, the co-occurrence of these diseases has never been reported. In this study, we present a man with Poland syndrome who was diagnosed with Graves' ophthalmopathy and ocular myasthenia gravis in succession. CASE PRESENTATION: A 43-year-old man presented with bilateral upper eyelid ptosis, bilateral eye protrusion, bilateral eye movement disorder and malformation of the right hand. Asymmetrical malformation of the chest wall and ipsilateral hand deformity were shown as Poland syndrome. He was diagnosed with ocular myasthenia gravis and Graves' ophthalmopathy on the basis of clinical manifestations and laboratory examinations, including bilateral exophthalmos and progressive asymmetrical ophthalmoparesis without pupillary dysfunction, positive autoantibody tests, repetitive nerve stimulation tests, and computed tomography scans. Treatments with pyridostigmine bromide, thymectomy, and prednisone led to partial clinical improvement. After 13 months of follow-up, the symptoms of drooping eyelids were partially improved, but the eyeball protrusion and right hand deformity remained unchanged. CONCLUSIONS: We report the first case of co-occurrence of ocular myasthenia gravis, Graves' ophthalmopathy, and Poland syndrome. Genetic predisposition and immune dysregulation might be the pathogenesis of the association.

Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication.

Poland's syndrome (PS; OMIM 173800) is a rare congenital syndrome which consists of absence or hypoplasia of the pectoralis muscle. Other features can be variably associated, including rib defects. On the affected side other features (such as of breast and nipple anomalies, lack of subcutaneous tissue and skin annexes, hand anomalies, visceral, and vertebral malformation) have been variably documented. To date, association of PS with central nervous system malformation has been rarely reported remaining poorly understood and characterized. We report a left-sided PS patient carrying a de novo 1.5 Mb Xp22.31 duplication diagnosed in addiction to strabismus, optic nerves and chiasm hypoplasia, corpus callosum abnormalities, ectopic neurohypophysis, pyelic ectasia, and neurodevelopmental delay. Since, to our knowledge, this features' association has not been previously reported, we argue that this case may contribute to further widening of the variability of PS phenotype.

Poland Sequence: Retrospective Analysis of 66 Cases.

INTRODUCTION AND OBJECTIVES: The literature reports many variations of Poland syndrome, which is a congenital disorder and a rare condition. The associated features are extremely variable, including alterations in the ipsilateral thorax and upper extremity and other malformations. This is used to designate the condition as Poland sequence (PS) because a sequence is a primary defect with a secondary cascade of structural changes. It is generally accepted that it is characterized as pathognomonic by absence/aplasia of the sternocostal aspect of the pectoralis major muscle of one side. Because it is considered a rare disease, and the incidence is low, we aimed to determine the features in all patients diagnosed at our institution to analyze the patterns and outcomes. We also revised the diagnosis according to the new classification proposed by Romanini et al to facilitate future treatments as well as to propose an improvement in the assessment and initial behavior when PS is suspected. METHODS: We performed a retrospective study using our database from 1988. We identified 66 patients with a clinical diagnosis of PS in the Pediatric Plastic Surgery Unit of Hospital Sant Joan de Deu, Barcelona. We analyzed the medical charts, records, photographs, and imaging information to gather all the epidemiological information and clinical history, as well as the treatments received to analyze our experience with these patients. We used the TBN classification of Romanini et al, adding an S if there was upper extremity involvement (TBNS).We also conducted a systematic review consulting the following databases: PubMed, Cochrane Plus, Scopus, Web of Science, and Europe PMC. RESULTS: Among the 66 patients, 27 were men, and 39 were women. The right side was affected in 51 patients (77.3%) (19 men and 32 women). In a total of 37 patients (56.1%; 16 men and 21 women), there was no upper extremity involvement. We found 40 cases with other associations, with scoliosis being the most common. Before 2007, the team performed surgery in 1 male patient and 4 female patients; after 2007, the actual team has performed reconstruction in 8 male patients and 16 female patients. In the female patients, the average volume of breast implants was 252.5 cc, and the average volume for fat grafting was 103.5 cc on the side affected with PS. There is a wide range of chest-breast clinical involvement, which was why we decided to readdress all the imaging and clinical history to classify the patients using a new classification system to learn how to optimally treat these cases in the future. In female patients, we used Romanini's TBN classification and added an S for upper extremity involvement; the T1B1N1S0 was the most frequently observed classification. Owing to the sample size and the disparity in sex distribution, we also reassessed publications in PubMed, Cochrane Plus, Scopus, Web of Science, and Europe PMC with more than 5 cases; we found that there were a total of 1600 patients with PS in the literature and that the distribution was almost 50% for men and women, including the patients in our study (611 women, 561 men). CONCLUSIONS: We propose to include the presence of upper extremity involvement in Romanini's TBN classification (TBNS) for optimal management of these patients and use a standard number and profile for image documentation presurgery and postsurgery. We found that in the literature the ratio of men and women with PS was not 2 to 3:1, but 1:1. The most frequent phenotype of PS was T1B1N1S0 (hypoplasia or aplasia of the pectoralis muscles and soft tissue/breast hypoplasia/nipple-areolar complex with dislocation of <2 cm / absence of upper extremity involvement). There was no relationship between the side involved and patients' sex for the severity of the deformity and between the severity of the thoracic involvement and ipsilateral upper extremity association. In the literature, there are several plastic reconstruction methods available ranging from standard implants to microsurgery techniques. The selected procedure depends on the phenotype, patients' needs and expectations, availability of surgery in the hospital, and surgeons' criteria; thus, surgery has to be personalized while providing a match related to the risk/benefit, taking into account the degree of functional impairment. Since the author started her practice in the hospital in 2007, the timing for procedures has been proposed at the end of adolescence with 2 consecutive appointments without changes in the breast-thorax measures. The procedure performed has included implant use with lipofilling, yielding no major complications and a high rate of satisfaction during a maximum of 10 years of follow-up.

Breast Reconstruction in Poland Syndrome Patients with Latissimus Dorsi Myo Flap and Implant: An Efficient Endoscopic Approach Using Single Transverse Axillary Incision.

BACKGROUND: Breast hypoplasia or amastia with pectoralis major muscle defect in female Poland syndrome patients always necessitates surgical intervention. This study aims to introduce an efficient endoscopic technique to perform breast reconstruction in Poland syndrome patients with a latissimus dorsi myo flap and an implant using a single transverse axillary incision (ELDM + IMPLANT) and to evaluate its safety and effectiveness. METHODS: A prospective study was designed to recruit Poland syndrome candidates for ELDM + IMPLANT breast reconstruction. Only one transaxillary incision was made to harvest the LDM flap and create the anterior chest wall pocket. The LDM flap was transposed to the front to reconstruct the breast with a silicone implant. Patient demographics, LDM area, implant size, contralateral symmetry surgery, operative time and post-operative complications were collected. The BREAST-Q reconstruction module was used to evaluate patient quality of life. The disabilities of the arm, shoulder and hand (DASH) outcome questionnaire was used to evaluate patient upper extremity disabilities. RESULTS: Sixteen eligible patients were recruited and received ELDM + IMPLANT-BR. Mean endoscopic time for LDM flap harvesting was 61.6 min. All of the 16 patients recovered uneventfully without any significant complications. The post-operative scores of satisfaction with breast and psychosocial well-being were significantly higher than the pre-operative ones. The score of DASH was 7.1 pre-operatively and 8.3 post-operatively with no significant difference either. The score of satisfaction with outcome was 80.0. CONCLUSIONS: Our proposed ELDM + IMPLANT technique provides a safe and efficient way to reconstruct breasts in Poland syndrome patients with a high satisfaction rate, optimized aesthetic outcome and minimized donor site morbidity. 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 www.springer.com/00266 .

Poland syndrome before Alfred Poland: the oldest medical description (Paris, France, 1803).

Here, we present a description of Poland syndrome from the second session of the Anatomical Society (Paris, France) on 11 December 1803 of congenital mammary absence and muscular atrophy on the right side. This case report predates the first official description of the disease published by Alfred Poland in Guy's Hospital Reports (London, 1841). Consequently, perhaps would it be necessary to do justice to its French discoverer, and to name from now on this nosological entity the "syndrome of Marandel"?

Anaesthesia for chest wall reconstruction in a patient with Poland syndrome: CARE-compliant case report and literature review.

BACKGROUND: Poland syndrome is a rare congenital disease, characterized by agenesis/hypoplasia of the pectoralis major muscle, usually associated with variable thoracic anomalies that needed chest wall reconstruction under general anesthesia. Anaesthetic management in Poland syndrome has scarcely been described. CASE PRESENTATION: Here, we present our anaesthetic management of Nuss procedure for chest wall correction in a 5 years old patient with Poland syndrome. We also reviewed the reports of anaesthetic management of Poland syndrome by searching Pubmed, and summarize the perioperative procedures that may warrant a safe surgery. CONCLUSIONS: Examinations before surgery, intraoperative monitoring, choice of general anesthetics and pain management after surgery should all be contemplated.

The value of full-body skin examination: Poland syndrome diagnosed as an incidental finding.

Poland syndrome is a rare congenital disorder characterized by agenesis of the pectoralis major muscle. It is generally unilateral, right-sided, and can be associated with a myriad of thoracic and upper limb defects. Knowledge of this disorder can lead the astute clinician to prompt diagnosis and referral to surgical specialists for further workup. Surgery is often performed for either esthetic or functional concerns.

Controversies in Poland Syndrome: Alternative Diagnoses in Patients With Congenital Pectoral Muscle Deficiency.

PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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. CLINICAL RELEVANCE: Differentiating Poland syndrome from the alternative diagnoses has serious consequences for the patient and their family in terms of inheritance and possible related anomalies.