BackgroundPoland 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.MethodsTo investigate the prevalence of chromosomal imbalances in PS, standard cytogenetic and array-CGH analyses were performed in 120 PS patients.ResultsFollowing 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 Möbius Syndrome with variable phenotypes including pectoralis muscle agenesis.ConclusionsA 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.

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

This report describes a patient who had bilateral facial nerve paralysis, external ophthalmoplegia, absence of pectoralis major muscle at right side, ipsilateral hand and foot, and controlateral hand anomalies. To our knowledge, this is the first patient with Poland syndrome reported in combination with Moebius syndrome, presenting with controlateral hand and ipsilateral foot anomalies.

Ipsilateral foot and controlateral hand anomalies in a patient with Poland?Moebius syndrome

Poland syndrome is a congenital syndrome, described for the first time in 1841 by Sir Alfred Poland.[1 2][1] The estimated incidence is 1/30 000 to 1/32 000 live births,[2][2] predominantely affecting men, varying from 2:1 to 3:1.[1][1] The defect is more frequently unilateral and on the right

https://casereports.bmj.com/content/bmjcr/14/3/e241395.full.pdf

Poland syndrome: neonatal presentation with axillary pterygium

BACKGROUND Breast reconstruction is commonly performed for a multitude of noncancerous indications, such as correction of congenital deformities, acquired tissue disease, burns, and trauma. However, breast reconstruction for noncancerous indications is often considered cosmetic or not explicitly mentioned in insurance policies. The goal of this study was to assess variability in insurance coverage of breast reconstruction for noncancerous indications. METHODS The authors conducted a cross-sectional analysis of 102 US insurance companies, including Medicare and Medicaid, for coverage of breast reconstruction for noncancerous indications (Poland syndrome, fibrocystic breast disease, burns and trauma). Insurance companies were selected based on their state enrollment data and market share. A Web-based search and individual telephone interviews were conducted to identify the policy. Medical necessity criteria were abstracted from publicly available policies. RESULTS Half of the insurers (49%, n = 50) had no policy for Poland syndrome, 46% (n = 47) had no policy for burns and trauma, and 82% (n = 84) had no policy for fibrocystic breast disease. Fifty-two percent (n = 22) of policies providing coverage for Poland syndrome, 24% (n = 13) of policies providing coverage for burns and trauma, and 58% (n = 7) of policies providing coverage for fibrocystic breast disease had specific, stringent criteria for medical necessity. Thirty-six percent (n = 15) of policies covering Poland syndrome, 47% (n = 26) of policies covering burns and trauma, and 33% (n = 4) of policies covering fibrocystic breast disease include coverage of the contralateral breast. CONCLUSIONS There is a paucity of publicly available information on insurance coverage of breast reconstruction for noncancerous indications and a lack of consensus between top US insurance companies on what constitutes medical necessity for surgical correction.

A National Review of Insurance Coverage of Noncancerous Breast Reconstruction.

Poster: "ESSR 2012 / P-0078 / US evaluation of Poland syndrome " by: " M. Alessio Mazzola 1, S. Boccalini1, E. Fisci1, C. Rolla Bigliani1, A. Tagliafico1, C. Martinoli2; 1Genoa/IT, 2Genova/IT"

US evaluation of Poland syndrome

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. 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. Being Poland syndrome a rare syndrome most recommendations here presented are good clinical practice based on the consensus of the participant experts.

/pdf/consensus-based-recommendations-for-diagnosis-and-medical-cy9e5p6xky.pdf

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

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