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.

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.

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.

Primary Right Atrial Cardiac Angiosarcoma in Patient With Poland Syndrome: Case Report and Review of the Literature.

This article presents the case of a 24-year-old woman with Poland syndrome who developed primary right atrial cardiac angiosarcoma. The patient presented to the hospital with dyspnea and chest pain, and imaging studies revealed a large mass attached to the right atrium. Urgent surgery was performed to remove the tumor, and the patient underwent adjuvant chemotherapy afterward. Follow-up exams showed no signs of the tumor or any complications from treatment. Poland syndrome is a rare congenital disorder characterized by the absence of unilateral large pectoral muscle, ipsilateral symbrachydactyly, and other malformations of the anterior chest wall and breast. Although the condition does not predispose patients to malignancy, different pathologies can be seen in these patients due to the unknown etiology of the syndrome. Primary right atrial cardiac angiosarcoma is a rare malignancy, and its coexistence with Poland syndrome has not been well established in the literature. This case report highlights the need to consider cardiac angiosarcoma as a possible diagnosis in patients with Poland syndrome who present with cardiac symptoms.

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 .

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.

[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.

[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.

[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.

[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.

Poland syndrome: a new classification system based on a retrospective analysis of 74 cases.

LEVEL OF EVIDENCE: III.

A de novo SFMBT1 pathogenic variant identified in a boy with Poland syndrome.

Poland syndrome is a rare developmental disorder characterized by unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, accompanied with ipsilateral hand malformations. To date, no clear genetic cause has been associated with Poland syndrome, although familial cases have been reported. We report the employment of trio exome investigation and the identification of a heterozygous de novo pathogenic variant in the SFMBT1 gene, a transcription factor associated with transcriptional repression during development, in a 14-yr-old boy with Poland syndrome. We further demonstrate by means of cDNA sequencing and western blot analysis that this variant results in SFMBT1 exon 10 skipping and a lower concentration of the SFMBT1 wild-type protein. To our knowledge, the heterozygous pathogenic SFMBT1 variant identified in association with this condition is novel as it has not been elsewhere described in the literature and it can be incorporated to the limited reported cases published.

Diagnostic value of chest computed tomography images in adult Poland syndrome: a report of two cases.

Poland syndrome is a rare congenital developmental deformity characterized by unilateral agenesis or hypoplasia of thoracic wall soft tissue. We report two adult cases of Poland syndrome detected by computed tomography (CT) images. CT images of the two cases depicted an asymmetric chest wall with the absence of a breast and agenesis of the pectoralis muscles. A physical examination of case 1 showed a thin right chest wall with depression of the right nipple region. Hand deformities were also observed, including brachydactyly and syndactyly. In case 2, hand deformities were not found in a physical examination. Using multi-planar reconstruction, the size, position, origin, and termination of bilateral pectoral muscles could be compared symmetrically. For patients with Poland syndrome, a timely diagnosis and treatment are important. The use of chest CT in clinical practice could play an important role in the early diagnosis and treatment of Poland syndrome.

Natural History of Poland Syndrome: A Long-term Study of Functional and Psychosocial Outcomes.

BACKGROUND: Poland syndrome (PS) is a congenital condition characterized by pectoralis hypoplasia and an ipsilateral hand anomaly that frequently necessitates surgery in childhood. This study aimed to determine long-term functional and psychosocial implications of PS. METHODS: Patients underwent strength testing of their affected limb by comparing with their contralateral arm. They completed Disabilities of the Arm, Shoulder, and Hand (DASH), 36-item Short-Form Health Survey (SF-36), and several Patient-Reported Outcome Measurement Information System (PROMIS) surveys. Aggregate scores were compared with population norms. RESULTS: Twenty-eight patients were enrolled, and 16 returned for strength testing. The average age was 42 years (range, 18-65 years), and the average follow-up was 25 years (range, 1-52 years). Dynamometer testing showed decreased strength in shoulder internal rotation and abduction/adduction, hand grip, and key pinch/tip pinch. Average DASH and SF-36 scores were comparable with population norms. The PROMIS Upper Extremity score (46.2) was significantly lower than the average 50 (SD, 10.0); the Social Roles score (57.3) indicated significantly less disability than the general population. Seventy-nine percent reported higher than average satisfaction with life, 82% had normal self-esteem, and 21% and 4% met screening criteria for depression and anxiety, respectively. The Derriford Appearance Scale revealed that 68% of patients identified PS as their most self-conscious feature, with 36% reporting subsequent life adjustments. CONCLUSIONS: This cohort of PS patients self-reported more favorable functional, psychological, and emotional outcomes than expected based on significant shoulder and hand strength deficits. Despite these deficits, patients make adaptations, allowing fulfilling lives with psychosocial functioning similar to their peers.

Prevalence of Hand Malformations in Patients With Moebius Syndrome and Their Management.

BACKGROUND: Moebius syndrome is a disorder characterized by facial and abducens nerve paralysis. Patients can present a wide range of upper extremity malformations. Literature focused on orthopedic manifestations of Moebius syndrome shows variability in the prevalence and clinical presentation of upper extremity anomalies. The aim of this work is to evaluate the prevalence of upper extremity malformations in patients with Moebius syndrome, clarify its various clinical presentations, and present treatment strategies for their management. METHODS: This is a retrospective, cross-sectional study including patients with Moebius syndrome and upper extremity malformations between 2012 and 2019. Data include demographic characteristics, Moebius syndrome subtype, type of malformation, affected extremity, and surgical procedures underwent. Quantitative data were recorded as mean (standard deviation [SD]), and qualitative data were expressed in terms of totals and percentages. Statistical association between Moebius syndrome subtype and development of upper extremity anomalies was evaluated using binary logistic regression. RESULTS: Twenty-five out of 153 patients (16.3%) presented upper extremity malformations (48% male). Mean age of presentation was 9.08 ± 9.43 years. Sixty-eight percent of the malformations were unilateral. The most common presentations included Poland syndrome and simple syndactyly with 8 cases each (32%), followed by 5 cases of brachysyndactyly (20%), 3 cases of amniotic band syndrome (12%), and 1 case of cleft hand (4%). No statistical association was found between Moebius syndrome subtype and odds ratio for development of upper extremity anomalies. Thirteen patients (52%) underwent reconstructive procedures. CONCLUSION: Poland syndrome and syndactyly are the most common anomalies in patients with Moebius syndrome. Patients may present with a wide range of hand malformations, each patient should be carefully evaluated in order to determine whether surgical treatment is needed and to optimize rehabilitation protocols.