Assessment of copy number variations in 120 patients with Poland syndrome

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

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

Background Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals. Main body The aim of this work is to provide recommendations for the diagnosis and management of people affected by Poland syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years affected subjects. The literature search was performed in the second half of 2019. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus. Conclusion Being Poland syndrome a rare syndrome most recommendations here presented are good clinical practice based on the consensus of the participant experts

The Cervico-Parasternal Thoracotomy (CPT): A New Surgical Approach for the Resection of Cervicothoracic Neuroblastomas

Cervicothoracic neuroblastomas (NBs) pose unique surgical challenges due to the complexity of the neurovascular structures located in the thoracic inlet. To date, two main techniques have been reported to completely remove these tumours in children: the trans-manubrial and the trap-door approaches. Herein, the authors propose a third new surgical approach that allows a complete exposure of the posterior costovertebral space starting from the retro-clavicular space: Cervico-Parasternal Thoracotomy (CPT). The incision is made along the anterior margin of the sternocleidomastoid muscle until its sternal insertion, and then the incision proceeds vertically following the ipsilateral parasternal line. The major pectoralis muscle is detached, and the clavicle and the ribs are disarticulated from their sternal insertions. Following an accurate isolation of the major subclavian blood vessels and the brachial plexus roots, the tumour is then completely exposed and resected by switching from a frontal to a lateral view of the costo-vertebral space. By adopting this technique, five cervicothoracic NBs were completely resected in a median operative time of 370 min (range: 230-480 min). By proceeding in safety with the heart apart, neither vascular injuries nor nerve damages occurred, and all patients were safely discharged in a median postoperative time of 11 days (range: 7-14 days). At the last follow-up visit (median: 16 months, range: 13-21 months), all patients were alive and disease-free

Poland syndrome: A proposed classification system and perspectives on diagnosis and treatment

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

Additional file 1: of Assessment of copy number variations in 120 patients with Poland syndrome

Figure S1. Quantitative polymerase chain reaction. In the Figure, examples of qPCR results obtained from three PS patients carrying three different CNVs are shown. A) Patient PS16: primers were designed to amplify a region encompassed by the duplication (chr16:74,313,856-74,313,966) and a 5′ flanking region (chr16:73,857,457-73,857,556); B) patient PS3: primers were designed to amplify a region encompassed by the duplication (chr5:22,539,039-22,539,170) and a 5′ flanking region (chr5:21,756,984-21,757,122); C) Patient PS10: primers were designed to amplify a region encompassed by the deletion (chr11:28,126,119-28,126,268) and a 5′ flanking region (chr11:28,075,866-28,076,003). Fold change of about 1 is expected for a diploid sample, about 0.5 for a haploid sample, and about 2.0 for a triploid sample. ctr: genomic DNA from one healthy adult used as control. (TIF 1168 kb