Abstract
Poland syndrome, also known as pectoral aplasia-dysdactylia syndrome, is a rare anomaly, characterized by aplasia of the pectoralis major muscle with ipsilateral upper extremity anomalies. The cause of Poland syndrome is still unknown. Several twin patients were reported to propose a genetic or nongenetic hypothesis. We experienced a female baby showing absence of the pectoralis major muscle in a pair of mixed twin. The patient was referred to our hospital for evaluation of an asymmetric chest wall. She showed depression of the left chest wall, ipsilateral nipple hypoplasia, and axillary webbing. A chest CT scan showed aplasia of the left large pectoral muscle. Our patient had no abnormalities such as symbrachydactyly in an ipsilateral upper extremity. In comparison, a physical examination showed that the fraternal twin boy was completely normal.
References
1. Poland A. Deficiency of the pectoral muscles. Guy's Hosp Rep. 1841; 6:191–3.
2. Hegde HR, Shokeir MH. Posterior shoulder girdle abnormalities with absence of pectoralis major muscle. Am J Med Genet. 1982; 13:285–93.
4. Jung JY, Kim HG, Ahn HM, Cho SJ, Park EA. The first Korean case of poland-Möbius syndrome associated with dextrocardia. Korean J Pediatr. 2009; 52:1388–91.
5. Shin SH, Jun YB, Jeon SH, Kang JH, Kim H, Jung WS, et al. Poland Syndrome: One Case Report. Korean J Thorac Cardiovasc Surg. 1998; 31:915–8.
6. Jeong ST, Moon DK, Sung CM, Park HB. Poland Syndrome: A Case Report. J Korean Shoulder Elbow Soc. 2010; 13:123–6.
7. Jung HY, Kwak JR, Kim MJ, Kim JC. Poland's Syndrome: Two cases report. J Korean Acad Rehabil Med. 2000; 24:1019–23.
8. Baban A, Torre M, Costanzo S, Gimelli S, Bianca S, Divizia MT, et al. Familial Poland anomaly revisited. Am J Med Genet A. 2012; 158A:140–9.
9. Vaccari CM, Romanini MV, Musante I, Tassano E, Gimelli S, Divizia MT, et al. De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland syndrome. BMC Med Genet. 2014; 15:63–9.
10. Cobben JM, Robinson PH, van Essen AJ, van der Wiel HL, ten Kate LP. Poland anomaly in mother and daughter. Am J Med Genet. 1989; 33:519–21.
12. Fraser FC, Ronen GM, O'Leary E. Pectoralis major defect and Poland sequence in second cousins: extension of the Poland sequence spectrum. Am J Med Genet. 1989; 33:468–70.
15. McGillivray BC, Lowry RB. Poland syndrome in British Columbia: incidence and reproductive experience of affected persons. Am J Med Genet. 1977; 1:65–74.