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A very unusual case of poland syndrome with amastia-athelia and dextrocardia

Abstract

Poland syndrome is a rare congenital anomaly characterized by unilateral aplasia of the costosternal portion of the pectoralis major muscle, absence of the pectoralis minor muscle, deformity or aplasia of the costal cartilages or ribs II to IV or III to V, hypoplasia or aplasia of the breast and nipple, athelia, scarcity of subcutaneous tissue, alopecia of the axillary and mammary region and unilateral syndactyly or brachysyndactyly. The prevailing theory regarding its cause is that the hypoplasia of the subclavian artery or its branches may lead to a range of developmental changes.

The congenital unilateral absence of the breast (amastia) and the nipple (athelia) is a very rare deformity and more often encountered in women. We present one very unusual case of Poland syndrome in a woman referred to the Hospital for the treatment of uterine fibroma with amastia-athelia and dextrocardia without complete mirror-image transposition of the adbominal and thoracic viscera and we also review the literature.

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References

  1. 1.

    Briner V, Thiel G: Hereditäres Poland-Syndrom mit Megacalicose der rechten Niere. Schweiz Med Wochenschr,1988;118:898.

    PubMed  CAS  Google Scholar 

  2. 2.

    Lord MJ, Laurenzano KR, Hartmann Jr RW: Poland’s syndrome. Clin Pediatr (Phila) 1990;29:606–609.

    Article  Google Scholar 

  3. 3.

    Ravitch MM: Poland_s syndrome. In: Ravitch MM (ed). Congenital deformities of the chest wall and their operative correction. WB Saunders: Philadelphia, London, Toronto, 1977:pp 233–271.

    Google Scholar 

  4. 4.

    Versaci AD, Balkovich ME, Goldstein SA: Breast reconstruction by tissue expansion for congenital and burn deformities. Ann Plast Surg 1986; 16:20–31.

    PubMed  Article  CAS  Google Scholar 

  5. 5.

    Ravitch MM:Poland’s syndrome — a study of an eponym. Plast Reconstr Surg. 1977; 59:508–512.

    Google Scholar 

  6. 6.

    Ribeiro RC, Saltz R, Mangles MG, Koch H: Clinical and radiographic poland syndrome classification: a proposal. Aesthet Surg J. 2009;29(6):494–504.

    PubMed  Article  Google Scholar 

  7. 7.

    David TJ: Familial Poland anomaly. J Med Genet. 1982;19(4):293–296.

    Article  Google Scholar 

  8. 8.

    Martinez-Frias ML, Czeizel AE, Rodriguez-Pinilla E, Bermejo E: Smoking during pregnancy and Poland sequence: results of a population-based registry and a case-control registry. Teratology. 1999;59(1):35–38.

    PubMed  Article  CAS  Google Scholar 

  9. 9.

    Bavinck JN, Weaver DD: Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies. Am J Med Genet. 1986;23(4):903–918.

    PubMed  Article  CAS  Google Scholar 

  10. 10.

    Bohun CM, Potts JE, Casey BM, Sandor GG: A populationbased study of cardiac malformations and outcomes associated with dextrocardia. Am J Cardiol. 2007;100(2):305–309.

    PubMed  Article  Google Scholar 

  11. 11.

    Sepulveda W: Poland syndrome: a rare cause of cardiac dextroposition in the fetus. Prenat Diagn. 2009;29(9):903–905.

    PubMed  Article  Google Scholar 

  12. 12.

    Torre M, Baban A, Buluggiu A, Costanzo S, Bricco L, Lerone M, Bianca S, Gatti GL, Sénès FM, Valle M, Calevo MG: Dextrocardia in patients with Poland syndrome: Phenotypic characterization provides insight into the pathogenesis. J Thorac Cardiovasc Surg. 2009 Nov 10.

  13. 13.

    Booth DH, Persaud TV: Congenital absence of the breast. Anat Anz. 1984;155(1–5):29–30.

    PubMed  CAS  Google Scholar 

  14. 14.

    Briner V, Thiel G: Hereditary Poland syndrome with megacalycosis of the right kidney. Schweiz Med Wochenschr. 1988;118(23):898–903.

    PubMed  CAS  Google Scholar 

  15. 15.

    Mooney JF 3rd, White DR, Glazier S: Previously unreported structure associated with Sprengel deformity. J Pediatr Orthop. 2009;29(1):26–28.

    Google Scholar 

  16. 16.

    Balachandran G: Klippel-Feil syndrome and anterior cervical meningomyelocele: a rare case report. AJNR Am J Neuroradiol. 2009; 30(9):E130.

    PubMed  Article  CAS  Google Scholar 

  17. 17.

    Mishra D, Sinha BP, Kumar R: Goldenhar syndrome with unusual association of pre-axial polydactyly. Eur J Ophthalmol. 2009;19(6):1063–1064.

    PubMed  Google Scholar 

  18. 18.

    Curcio A, Giuricin M, Lelli D, Falcini F, Nava MB, Folli S: Poland’s syndrome and thoracic duct anomaly. Eur J Plast Surg 2009; 32:155–156.

    Article  Google Scholar 

  19. 19.

    Sone Y, Wada J, Yokoyama M, Kasagi Y, Saito M, Itaoka T: Surgical treatment of Poland’s syndrome. In: Wada J, Yokoyama M, eds. Chest wall deformities and their operative treatment. Tokyo: AD Printing Inc, 1990:197–208.

    Google Scholar 

  20. 20.

    Haller JA Jr, Colombani PM, Miller D, Manson P: Early reconstruction of Poland’s syndrome using autologous rib grafts combined with latissimus muscle flap. J Pediatr Surg 1984;19:423–429.

    PubMed  Article  Google Scholar 

  21. 21.

    Kim EK, Eom JS, Ahn SH, Son BH, Lee TJ: Evolution of the pedicled TRAM flap: a prospective study of 500 consecutive cases by a single surgeon in Asian patients. Ann Plast Surg. 2009;63(4):378–382.

    Article  Google Scholar 

  22. 22.

    Damen TH, Timman R, Kunst EH, Gopie JP, Bresser PJ, Seynaeve C, Menke-Pluijmers MB, Mureau MA, Hofer SO, Tibben A: High satisfaction rates in women after DIEP flap breast reconstruction. J Plast Reconstr Aesthet Surg. 2008.

  23. 23.

    Masia J, Kosutic D, Clavero JA, Larranaga J, Vives L, Pons G: Preoperative Computed Tomographic Angiogram for Deep Inferior Epigastric Artery Perforator Flap Breast Reconstruction. J Reconstr Microsurg. 2009.

  24. 24.

    Baban A, Torre M, Bianca S, Buluggiu A, Rossello MI, Calevo MG, Valle M, Ravazzolo R, Jasonni V, Lerone M: Poland syndrome with bilateral features: case description with review of the literature. Am J Med Genet A. 2009;149A(7):1597–1602.

    PubMed  Article  Google Scholar 

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Correspondence to N. Baltayiannis.

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Baltayiannis, N., Ifantidis, F., Gavressea, T. et al. A very unusual case of poland syndrome with amastia-athelia and dextrocardia. Hellenic J Surg 83, 33–38 (2011). https://doi.org/10.1007/s13126-011-0006-5

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Key Words

  • Poland Syndrome
  • Amastia
  • Athelia
  • Dextrocardia
  • Brachydactyly
  • Syndactyly