Poland Syndrome

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Nicolas Cuylits - One of the best experts on this subject based on the ideXlab platform.

  • from open to robotic assisted latissimus dorsi muscle flap harvest
    Plastic and reconstructive surgery. Global open, 2020
    Co-Authors: Alessandro Fouarge, Nicolas Cuylits
    Abstract:

    The latissimus dorsi muscle is the largest muscle in the body. The classic open flap harvest technique of this muscle results in a long posterolateral thoracic vertical oblique incision that can leave an unappealing scar. The minimally invasive robotic approach has the potential to reduce scar length and to overcome technical limitations of endoscopic techniques. Methods Six robotically assisted latissimus dorsi muscle flaps were harvested by a single surgeon. One was used as reversed turnover pedicled flap based on lumbar perforators for lumbosacral bone coverage, another flap was transposed for a Poland Syndrome anterior axillary line reconstruction, and the remaining 4 were dissected as free flaps for upper and lower limb reconstruction. All 6 procedures used a short 5-cm axillary crease incision along the posterior axillary fold and two 8-mm port incisions for robotic access. Results The first robotic flap harvest was converted to the classic open technique due to malposition of the 2 lower port incisions too close to the latissimus dorsi anterior border. The 5 other flaps were successfully transferred without flap or donor site complications. The average flap dissection time was 110 minutes; latter surgeries took less time than the early surgeries as the surgeon became more familiar with the robotic system and due to the use of a newer system. Conclusion Robotic-assisted latissimus dorsi muscle flap harvest is a safe, reproducible, and effective tool that offers precise dissection control and that leaves a minimal thoracic scar.

Wassim Raffoul - One of the best experts on this subject based on the ideXlab platform.

  • bipolar latissimus dorsi transfer through a single incision first key step in Poland Syndrome chest deformity
    Plastic and reconstructive surgery. Global open, 2016
    Co-Authors: William Watfa, Pietro G Di Summa, Wassim Raffoul
    Abstract:

    Poland Syndrome is a rare congenital anomaly characterized by a unilateral congenital absence of the sternocostal head of the pectoralis major muscle. The absence of the pectoralis major does not only result in chest asymmetry but also in a missing anterior axillary fold, which is essential for natural anatomical appearance in both male and female patients. In Poland Syndrome patients, we perform bipolar latissimus dorsi flap transfer, which can be associated with a sublatissimus implant in women. All procedures are performed through a single short midaxillary incision, and tendon translocation in this technique allows the creation of the anterior axillary fold and thus a natural chest appearance. Moreover, this technique can be performed by any plastic surgeon operating under a basic operating room setting.

Alessandro Fouarge - One of the best experts on this subject based on the ideXlab platform.

  • from open to robotic assisted latissimus dorsi muscle flap harvest
    Plastic and reconstructive surgery. Global open, 2020
    Co-Authors: Alessandro Fouarge, Nicolas Cuylits
    Abstract:

    The latissimus dorsi muscle is the largest muscle in the body. The classic open flap harvest technique of this muscle results in a long posterolateral thoracic vertical oblique incision that can leave an unappealing scar. The minimally invasive robotic approach has the potential to reduce scar length and to overcome technical limitations of endoscopic techniques. Methods Six robotically assisted latissimus dorsi muscle flaps were harvested by a single surgeon. One was used as reversed turnover pedicled flap based on lumbar perforators for lumbosacral bone coverage, another flap was transposed for a Poland Syndrome anterior axillary line reconstruction, and the remaining 4 were dissected as free flaps for upper and lower limb reconstruction. All 6 procedures used a short 5-cm axillary crease incision along the posterior axillary fold and two 8-mm port incisions for robotic access. Results The first robotic flap harvest was converted to the classic open technique due to malposition of the 2 lower port incisions too close to the latissimus dorsi anterior border. The 5 other flaps were successfully transferred without flap or donor site complications. The average flap dissection time was 110 minutes; latter surgeries took less time than the early surgeries as the surgeon became more familiar with the robotic system and due to the use of a newer system. Conclusion Robotic-assisted latissimus dorsi muscle flap harvest is a safe, reproducible, and effective tool that offers precise dissection control and that leaves a minimal thoracic scar.

Christianne A Van Nieuwenhoven - One of the best experts on this subject based on the ideXlab platform.

  • controversies in Poland Syndrome alternative diagnoses in patients with congenital pectoral muscle deficiency
    Journal of Hand Surgery (European Volume), 2017
    Co-Authors: Martijn Baas, Elise B Burger, Dimitri Sneiders, Robertjan H Galjaard, Steven E.r. Hovius, Christianne A Van Nieuwenhoven
    Abstract:

    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.

Maria Victoria Romanini - One of the best experts on this subject based on the ideXlab platform.

  • Poland Syndrome a proposed classification system and perspectives on diagnosis and treatment
    Seminars in Pediatric Surgery, 2018
    Co-Authors: Maria Victoria Romanini, Maria Grazia Calevo, Maura Valle, Filippo Senes, Carlotta Vaccari, Aldamaria Puliti, Michele Torre
    Abstract:

    Poland Syndrome (PS) is a rare condition, with an estimated incidence of approximately 1 per 30,000 births and encompasses a wide range of severities of chest and upper arm anomalies. The etiology remains unknown, but genetic involvement is suspected. Few radiological investigations have proven useful in the study PS phenotypes and we propose a reference algorithm for guiding pediatricians. Our experience with 245 PS patients in the last 10 years stimulated a phenotypical classification of PS. The management of the different PS types and a therapeutic algorithm according to the phenotypical features of each PS patient are also proposed.

  • Assessment of copy number variations in 120 patients with Poland Syndrome
    BMC medical genetics, 2016
    Co-Authors: Carlotta Maria Vaccari, Michele Torre, Maura Valle, Elisa Tassano, Stefania Gimelli, Maria Teresa Divizia, Maria Victoria Romanini, Simone Bossi, Ilaria Musante, Filippo Senes
    Abstract:

    Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies. Most cases are sporadic, but familial recurrence, with different inheritance patterns, has been observed. The genetic etiology of PS remains unknown. Karyotyping and array-comparative genomic hybridization (CGH) analyses can identify genomic imbalances that can clarify the genetic etiology of congenital and neurodevelopmental disorders. We previously reported a chromosome 11 deletion in twin girls with pectoralis muscle hypoplasia and skeletal anomalies, and a chromosome six deletion in a patient presenting a complex phenotype that included pectoralis muscle hypoplasia. However, the contribution of genomic imbalances to PS remains largely unknown. To investigate the prevalence of chromosomal imbalances in PS, standard cytogenetic and array-CGH analyses were performed in 120 PS patients. Following the application of stringent filter criteria, 14 rare copy number variations (CNVs) were identified in 14 PS patients in different regions outside known common copy number variations: seven genomic duplications and seven genomic deletions, enclosing the two previously reported PS associated chromosomal deletions. These CNVs ranged from 0.04 to 4.71 Mb in size. Bioinformatic analysis of array-CGH data indicated gene enrichment in pathways involved in cell-cell adhesion, DNA binding and apoptosis processes. The analysis also provided a number of candidate genes possibly causing the developmental defects observed in PS patients, among others REV3L, a gene coding for an error-prone DNA polymerase previously associated with Mobius Syndrome with variable phenotypes including pectoralis muscle agenesis. A number of rare CNVs were identified in PS patients, and these involve genes that represent candidates for further evaluation. Rare inherited CNVs may contribute to, or represent risk factors of PS in a multifactorial mode of inheritance.

  • proposal of the tbn classification of thoracic anomalies and treatment algorithm for Poland Syndrome
    Plastic and Reconstructive Surgery, 2016
    Co-Authors: Maria Victoria Romanini, Michele Torre, Maura Valle, Pierluigi Santi, Laura Dova, Carlo Martinoli, Iaria Baldelli
    Abstract:

    Background:Poland Syndrome is a congenital deformity characterized by unilateral anomalies of pectoralis muscles, breast, nipple, axillary fold, subcutaneous tissue, ribs, and upper limb. The thoracic anomaly, which is the pathognomonic malformation of Poland Syndrome, presents a wide phenotype vari

  • body image disorders and surgical timing in patients affected by Poland Syndrome data analysis of 58 case studies
    Plastic and Reconstructive Surgery, 2016
    Co-Authors: Ilaria Baldelli, Pierluigi Santi, Laura Dova, Rosagemma Ciliberti, Gaia Cardoni, Simonetta Franchelli, Domenico Franco Merlo, Maria Victoria Romanini
    Abstract:

    Background:Poland Syndrome is a congenital anomaly of pectoralis muscles, breast, chest, and upper arm. Several studies have reported that patients affected by chest wall deformities often experience body image disorders and decreased quality of life. Cosmetic corrective surgery is generally postpon

  • de novo deletion of chromosome 11q12 3 in monozygotic twins affected by Poland Syndrome
    BMC Medical Genetics, 2014
    Co-Authors: Carlotta Vaccari, Michele Torre, Margherita Lerone, Elisa Tassano, Stefania Gimelli, Maria Teresa Divizia, Maria Victoria Romanini, Ilaria Musante, Carmen Gloria Morovic, Roberto Ravazzolo
    Abstract:

    Poland Syndrome (PS) is a rare disorder characterized by hypoplasia/aplasia of the pectoralis major muscle, variably associated with thoracic and upper limb anomalies. Familial recurrence has been reported indicating that PS could have a genetic basis, though the genetic mechanisms underlying PS development are still unknown. Here we describe a couple of monozygotic (MZ) twin girls, both presenting with Poland Syndrome. They carry a de novo heterozygous 126 Kbp deletion at chromosome 11q12.3 involving 5 genes, four of which, namely HRASLS5, RARRES3, HRASLS2, and PLA2G16, encode proteins that regulate cellular growth, differentiation, and apoptosis, mainly through Ras-mediated signaling pathways. Phenotype concordance between the monozygotic twin probands provides evidence supporting the genetic control of PS. As genes controlling cell growth and differentiation may be related to morphological defects originating during development, we postulate that the observed chromosome deletion could be causative of the phenotype observed in the twin girls and the deleted genes could play a role in PS development.