Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication

Abstract

Poland's syndrome (PS; OMIM 173800) is a rare congenital syndrome which consists of absence or hypoplasia of the pectoralis muscle. Other features can be variably associated, including rib defects. On the affected side other features (such as of breast and nipple anomalies, lack of subcutaneous tissue and skin annexes, hand anomalies, visceral, and vertebral malformation) have been variably documented. To date, association of PS with central nervous system malformation has been rarely reported remaining poorly understood and characterized. We report a left-sided PS patient carrying a de novo 1.5 Mb Xp22.31 duplication diagnosed in addiction to strabismus, optic nerves and chiasm hypoplasia, corpus callosum abnormalities, ectopic neurohypophysis, pyelic ectasia, and neurodevelopmental delay. Since, to our knowledge, this features' association has not been previously reported, we argue that this case may contribute to further widening of the variability of PS phenotype.

Keywords

Poland's syndrome - hypoplasic optic nerve - CNS involvement

Publication History

Received: 11 May 2019

Accepted: 18 August 2019

Article published online:
03 February 2020

• References

• 1 Freire-Maia N, Chautard EA, Opitz JM, Freire-Maia A, Quelce-Salgado A. The Poland syndrome-clinical and genealogical data, dermatoglyphic analysis, and incidence. Hum Hered 1973; 23 (02) 97-104
• 2 McGillivray BC, Lowry RB. Poland syndrome in British Columbia: incidence and reproductive experience of affected persons. Am J Med Genet 1977; 1 (01) 65-74
• 3 Yiyit N, Işıtmangil T, Öksüz S. Clinical analysis of 113 patients with Poland syndrome. Ann Thorac Surg 2015; 99 (03) 999-1004
• 4 Yiyit N. Definition of the inclusion criteria of Poland's syndrome. Ann Thorac Surg 2014; 98 (05) 1886
• 5 Romanini MV, Calevo MG, Puliti A. , et al. Poland syndrome: a proposed classification system and perspectives on diagnosis and treatment. Semin Pediatr Surg 2018; 27 (03) 189-199
• 6 Poullin P, Toussirot E, Schiano A, Serratrice G. [Complete and dissociated forms of Poland's syndrome (5 cases)]. Rev Rhum Mal Osteoartic 1992; 59 (02) 114-120
• 7 Valasek P, Theis S, DeLaurier A. , et al. Cellular and molecular investigations into the development of the pectoral girdle. Dev Biol 2011; 357 (01) 108-116
• 8 Torre M, Baban A, Buluggiu A. , et al. Dextrocardia in patients with Poland syndrome: phenotypic characterization provides insight into the pathogenesis. J Thorac Cardiovasc Surg 2010; 139 (05) 1177-1182
• 9 Prati R, Vandelli C, Prosdocimo M, Piacentini F. [Poland syndrome associated with Moebius syndrome]. Pediatr Med Chir 1985; 7 (06) 901-903
• 10 Assadi FK, Salem M. Poland syndrome associated with renal agenesis. Pediatr Nephrol 2002; 17 (04) 269-271
• 11 Briner V, Thiel G. [Hereditary Poland syndrome with megacalycosis of the right kidney]. Schweiz Med Wochenschr 1988; 118 (23) 898-903
• 12 Kurt Y, Demirbas S, Uluutku AH, Akin ML, Çelenk T. Poland's syndrome and gastric cancer: report of a case. Eur J Cancer Prev 2006; 15 (06) 480-482
• 13 Hegde HR, Leung AK, Robson WL. Acro-pectoro-renal field defect with contralateral ureteropelvic junction obstruction. Clin Genet 1995; 47 (04) 210-213
• 14 Esplin ED, Li B, Slavotinek A. , et al. Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies. Am J Med Genet A 2014; 164A [phone]
• 15 Pavone P, Corsello G, Marino S, Ruggieri M, Falsaperla R. Microcephaly/trigonocephaly, intellectual disability, autism spectrum disorder, and atypical dysmorphic features in a boy with Xp22.31 duplication. Mol Syndromol 2019; 9 (05) 253-258
• 16 Li F, Shen Y, Köhler U. , et al. Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?. Eur J Med Genet 2010; 53 (02) 93-99
• 17 Liu P, Erez A, Nagamani SCS. , et al. Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet 2011; 20 (10) 1975-1988
• 18 Faletra F, D'Adamo AP, Santa Rocca M. , et al. Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature. Am J Med Genet A 2012; 158A [phone]
• 19 Qiao Y, Bagheri H, Tang F. , et al. Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication. Eur J Med Genet 2019; 62 (02) 103-108
• 20 Maxfield SD, Strominger MB. Optic disc dysplasia in Poland syndrome. Ophthalmic Genet 2014; 35 (02) 117-118
• 21 Pisteljić DT, Vranjesević D, Apostolski S, Pisteljić DD. Poland syndrome associated with 'morning glory' syndrome (coloboma of the optic disc). J Med Genet 1986; 23 (04) 364-366
• 22 Khan AO, Nowilaty SR. Early diagnosis of the papillorenal syndrome by optic disc morphology. J Neuroophthalmol 2005; 25 (03) 209-211
• 23 Garcia-Filion P, Borchert M. Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations. Curr Treat Options Neurol 2013; 15 (01) 78-89
• 24 Chen CA, Yin J, Lewis RA, Schaaf CP. Genetic causes of optic nerve hypoplasia. J Med Genet 2017; 54 (07) 441-449
• 25 Hozjan I. Optic nerve hypoplasia: more than meets the eye. J Pediatr Nurs 2017; 34: 98-100
• 26 Larizza D, Maghnie M. Poland's syndrome associated with growth hormone deficiency. J Med Genet 1990; 27 (01) 53-55
• 27 De Stefani E, Ardizzi M, Nicolini Y. , et al. Children with facial paralysis due to Moebius syndrome exhibit reduced autonomic modulation during emotion processing. J Neurodev Disord 2019; 11 (01) 12
• 28 Dessay S, Moizard MP, Gilardi JL. , et al. FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]. [FGS3] Am J Med Genet 2002; 112 (01) 6-11
• 29 Battaglia A, Chines C, Carey JC. The FG syndrome: report of a large Italian series. Am J Med Genet A 2006; 140 (19) 2075-2079
• 30 Vaccari CM, Tassano E, Torre M. , et al. Assessment of copy number variations in 120 patients with Poland syndrome. BMC Med Genet 2016; 17 (01) 89
• 31 Tassano E, Mirabelli-Badenier M, Veneselli E. , et al. Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion. Mol Cytogenet 2015; 8: 31