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.

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.

Reinforcing the vascular disruption theory of the genesis of Poland's syndrome: a rare association of diaphragmatic eventration in a preterm infant with severe musculoskeletal defects.

A preterm female infant was admitted at birth with respiratory distress. On examination, she had an asymmetric right chest wall and ipsilateral small hand. Air entry was reduced over the right chest. A clinical diagnosis of Poland's syndrome was made based on the hypoplasia of the right pectoral muscles, absent nipple, deformed ribs and symbrachydactyly of the ipsilateral hand. Chest X-ray suggested and ultrasound confirmed eventration of the right hemidiaphragm. 'Subclavian artery supply disruption sequence' (SASDS) theory by Bavnick and Weaver remains the most accepted pathogenic mechanism in Poland's syndrome. This case reinforces SASDS theory associated with the genesis of Poland's syndrome that relates to the pathogenicity of vascular disruption of subclavian artery, characteristics of which are unilateral pectoral defects, symbrachydactyly and eventration of the diaphragm. At 2 months, she underwent diaphragm plication. She is under review by our multidisciplinary surgical team for reconstruction of the chest deformity.

18F-FDG PET/CT in a Rare Case of Poland Syndrome and Gastric Cancer.

ABSTRACT: Poland syndrome is a rare congenital anomaly characterized by unilateral aplasia of the sternoclavicular head of pectoralis major muscle with varying degree of same side upper limb anomalies. A 44-year-old man, with a case of adenocarcinoma of stomach, whose CECT chest revealed complete absence of pectoralis major and minor muscles on the left side, was diagnosed with Poland syndrome without presence of typical ipsilateral limb anomalies. Follow-up PET/CT revealed metabolically active recurrent disease with typical findings of Poland syndrome. It is important to be aware of oncologic association in a patient of Poland syndrome as highlighted in the present case.

Poland syndrome accompanied by internal iliac artery supply disruption sequence: a case report.

BACKGROUND: Poland syndrome is a congenital malformation characterized by ipsilateral hand and chest wall depression, including an absence or hypoplasia of the breast and pectoral muscles. These hypoplastic defects are reportedly caused by a subclavian artery supply disruption sequence. CASE PRESENTATION: A 45-year-old Japanese woman, an out-patient, underwent an emergency examination for intense left lower abdominal pain. Computed tomography images revealed a hydronephrotic left kidney and dilatation of the left ureter. No ureteral calculus or neoplasm was found. In addition, no abnormalities connected to her left abdominal pain were found. Nephritis was diagnosed based on the results of urine analysis, and a course of antibiotics was administered. Computed tomography images also revealed a history of breast reconstruction with a custom-made silicone implant in her right breast. The present case showed symptoms of Poland syndrome, which were absence of the sternal head of the right pectoralis major and asymmetrical malformation of the chest wall due to hypoplasia of the right rib cage. In addition to typical Poland syndrome symptoms, she had hypoplasia of her right kidney, hypoplasia of the right gluteus minimus muscle, right-sided pelvic hypoplasia, spinal curvature to the right, and a cystic mass in her right ovary. CONCLUSIONS: In the present case of Poland syndrome, computed tomography images revealed malformation of the chest wall, absence of the pectoral muscle, and hypoplasia of a left kidney. Unilateral visceral hypoplasia is reported to be caused by a subclavian artery supply disruption sequence that occurs around 7 to 8 weeks of gestation. The present case can be considered a rare atypical phenotype of Poland syndrome with possible subclavian artery supply disruption sequence with internal iliac artery supply disruption.

Modified Ravitch Procedure for Left Poland Syndrome Combined With Pectus Excavatum.

Poland Syndrome is a rare disease with an incidence of 1 in 30,000. This disease is characterized by agenesis of the pectoralis major, hypoplasia of mammarian tissue and the nipple complex, and limb abnormalities. The severe form of this disease can be associated with rib and sternal malformations like pectus excavatum. A 19-year-old man with severe Poland syndrome with cardiac extrasystoles and restrictive ventilation as shown by a spirometry test is presented. A total sternal reconstruction with partial osteotomies and bilateral resection of cartilage was performed. The sternum was stabilized with underlying titanium bars and clips. The cosmetic result was satisfactory.

[Poland syndrome: about a case and review of the literature]. / Syndrome de poland: à propos d'un cas et revue de la litterature.

Poland syndrome is a rare congenital malformation associated with various degrees of thoracic and homolateral upper limb abnormalities. We report the case of a 7-year old girl who underwent exploration for depression of the left hemithorax associated with homolateral subclavicular mass. CT scan showed that the deformation of the thoracic wall was related to the absence of left pectoralis major muscle sterno-costal heads insertion associated with agenesis of the pectoralis minor muscle and hypoplasia of the anterior arches of the first six corresponding ribs. These abnormalities were related to Poland syndrome. General assessment was based on abdominal ultrasound, X-rays of both hands and did not show any associated malformation. Poland syndrome results from a deficit of blood flow to musculoskeletal elements of the chest wall during fetal life. There are many variants of Poland syndrome that can be best detected by CT scan and which must be performed whenever necessary, without omitting the role of general radiology in the detection of associated malformations. This syndrome is characterized by the agenesis of the sternocostal bundles of the pectoralis major muscle. Its etiology remains unknown and discussed. It can be caused by a vascular anomaly, without the primum movens of this vascular anomaly being known.

[Correction of congenital malformations by custom-made silicone implants: Contribution of computer-aided design. Experience of 611 cases]. / Chirurgie des malformations congénitales par implants sur mesure en silicone. Apport de la conception assistée par ordinateur (CAO). À propos d'une expérience de 611 cas opérés.

INTRODUCTION: Modern techniques of computer-aided design and tridimensional prototyping for manufacturing silicone elastomer custom implants are growing. They have widely modified the surgical indications in our unit. MATERIALS AND METHODS: By presenting their experience of 611 cases managed between 1993 and 2016, the authors describe the method of conception from CT-scans, the virtual image of the body and the manufacture of the custom-made implant perfectly adapted to the anatomy of each one. The operative techniques are described for the three main indications: the funnel chest or pectus excavatum (474 cases) according to a modified CHIN classification is corrected simply and very satisfactorily. This approach may render thoracic surgery techniques obsolete. Indeed, these operations remain risky and of doubtful functional utility; Poland syndrome (116 cases), where the use of a custom-made implant for compensation of muscle volume is frequently used, but can be improved by a transfer of adipose tissue or a classic breast implant; the leg atrophies (21 cases) receive custom elastomer implants introduced in a sub-fascial plane. RESULTS: The results are excellent for pectus excavatum but more difficult to optimize for the other two indications, requiring sometimes complementary techniques. Complications are rare and often benign, implants endure for life. Quality of life, psychological comfort and self-esteem have been improved with low morbidity and without having undergone a painful surgical experience. CONCLUSION: Reconstructive procedures of congenital malformations by custom-made silicone implants open a new field of activity for our surgical specialty with vast opportunities.

Poland syndrome involving the left hemithorax with dextrocardia and herniation of the spleen.

Poland syndrome is characterised by unilateral absence of the large pectoral muscle, ipsilateral symbrachydactyly and occasionally other malformations of the anterior chest wall and breast. The condition is more frequent among men and usually occurs on the right hemithorax in the unilateral form. This case is unique because we believe it is a rare case of Poland syndrome involving the left hemithorax along with dextrocardia and herniation of the spleen from the left subcostal region.