To The Editor:

I have read with interest the case report of "Congenital absence of multiple ribs" by Chen HJ.[1] For subjects with asymmetry of thoracic wall, Poland syndrome should be the first consideration. Until now, the etiology of Poland syndrome remains elusive. Interruption of the embryonic blood supply of the subclavain artery has been postulated, whilst the extent of involvement of the internal thoracic artery or brachial artery determines the severity of hand abnormalies.[2-4] Other causes of Poland syndrome may include disruption of lateral mesoderm,[5] single gene defects, trauma, viral infections or teratogenic effects of environmental xenobiotics, which have not yet been proven.[6-7]  Since Dr. Chen did not mention whether the pectoralis major or minor muscles were absent, the ipsilateral subclavian artery was also not studied, we are not able to draw a definite conclusion from his presentation, in which the author argues that limb anomalies exclude Poland syndrome. Despite the first description of Poland syndrome in 1841 characterized by congenital deficiency of the pectoralis major or minor muscles, associated with symbrachydactyly, later references encompass a spectrum of Poland syndrome with variable associations of hypoplasia of breast, athelia and/or amnastia or hand anomalies.[8-10] Nonetheless, Poland syndrome should not be confused with anterior thoracic hypoplasia which refers to subjects with hypoplasia or depression of ribs but normal pectoral muscles. Subjects with pectoral hypoplasia without hand involvement are also thought to have "partial Poland's sequence".[11]

Kin-Sun Wong, MD, Associate Professor,Chang Gung University, College of Medicine and Department of Pediatrics, Chang Gung Children’s Hospital

5 Fu Hsin Street, Taoyuan,Taiwan, China

Email: kswong@med-assn.org.tw

References

1  Chen HJ. Congenital absence of multiple ribs. World J Pediatr 2007;3:71-73.

2  Merlob P, Schonfeld A, Ovadia Y, Reeisner SH. Real-time echo-Doppler Duplex Scanner in the evaluation of patients with Poland sequence. Eur J Obstet Gynecol Reprod Biol 1989;32:103-108.

3  Bavinck JNB, Weaver DD. Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Mobius anomalies. Am J Med Genet 1986;23:903-918.

4  Bouvet JP, Leveque D, Bernetieres F, Gros JJ. Vascular origin of Poland syndrome? Eur J Pediatr 1978;18:17-26.

5  Bamforth JS, Fabian C, Machin G, Honore L. Poland anomaly with a limb body wall disruption defect: case report and review. Am J Med Genet 1992;43:780-784.

6 Freire-Maia N, Chautard EA, Opitz JM, Freire-Maia A, Quelce-Salgado A. The Poland syndrome—clinical and genealogical data, dermatoglyphic analysis, and incidence. Human Hered 1973;23:97-104.

7  David TJ. Nature and etiology of the Poland anomaly. N Engl J Med 1972;287:487-489.

8  Perez Aznar JM, Urbano J, Garcia Laborda E, Quevedo Moreno P, Ferrer Vergara L. Breast and pectoralis muscle hypoplasia. A mild degree of Poland's syndrome. Acta Radiol 1996;37:759-762.

9  Shamberger RC, Welch KJ, Upton J 3rd. Surgical treatment of thoracic deformity in Poland's syndrome. J Pediatr Surg 1989;24:760-765.

10 Spear SL, Pelletiere CV, Lee ES, Grotting JC. Anterior thoracic hypoplasia: a separate entity from Poland syndrome. Plast Reconstr Surg 2004;113:69-77.

11 Ireland DC, Takayama N, Flatt AE. Poland's syndrome. J Bone Joint Surg 1976:58:52-58.

The Author Reply:

I am glad that Dr. Wong is interested in the case I reported recently. Dr. Wong considered that it is a case of Poland syndrome, which is worth discussing.

Poland syndrome is called "pectoralis muscle deficiency-syndactyly syndrome" that means pectoralis muscle deficiency and syndactyly, two concomitant physical signs at least, consist of the deformity, so Poland's syndrome is also named Poland's syndactyly. Cases of Poland's syndrome may be associated with hemangioma, leukemia, carcinoma of hypoplastic breast, and other conditions.[1] In recent reports,[2-5] the diagnosis of Poland's syndrome still includes limb anomalies like hypoplasia with syndactyly, brachydactyly and oligodactyly as described in Smith's Recognizable Patterns of Human Malformation[6]. Al-Qattan made a special classification of hand anomalies in Poland's syndrome,[7] but Foucras et al[8] analyzed 37 cases of Poland's syndrome and found malformations of hands in 12%. They considered that malformations of hands in Poland's syndrome are less frequent than the classical ones. Although there are different points of view for the diagnosis of Poland's syndrome, we have to follow the classical criteria for the diagnosis of the deformity before the new diagnostic criteria for Poland's syndrome are issued. This is why the case I reported has not been diagnosed as Poland's syndrome because of the absence of brachydactylia and syndactyly of her hands.

I appreciate Dr. Wong's opinion, which helps me to review in detail the relevant literature and better understand Poland's syndrome. I agree that the case may be diagnosed as "partial Poland's sequence" rather than "Poland's syndrome".

Hui-Jin Chen, MD, Professor of Pediatrics, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine

1665 Kongjiang Road, Shanghai 200092, China

Email: hjchenk@online.sh.cn

1  Fokin AA, Robicsek F. Poland's syndrome revisited. Ann Thorac Surg 2002;74:2218-2225.

2. Kurt Y, Demirbas S, Uluutku AH, Akin ML, Celenk T. Poland's syndrome and gastric cancer: report of a case. Eur J Cancer Prev 2006;15:480-482.

3  Kulkarni ML, Sneharoopa B, Vani HN, Nawaz S, Kannan B, Kulkarni PM. Eventration of the diaphragm and associations. Indian J Pediatr 2007;74:202-205.

4  Gerlinger I, Jarai T, Lujber L, Pytel J. Poland's syndrome and head-and-neck tumour: an unusual association causing a reconstruction dilemma. Eur Arch Otorhinolaryngol 2007; 264:553-556.

5  Riyaz N, Riyaz A. Poland syndrome (anomaly) with congenital hemangioma: a new association. Indian J Dermatol Venereol Leprol 2006;72:222-223.

6  Jones KL. Smith's recognizable patterns of human malformation, 5th ed. Philadelphia: WB Saunders, 1997: 116-302.

7  AL-Qattan MM. Classification of hand anomalies in Poland's syndrome. Br J Plast Surg 2001;54:132-136.

8  Foucras L, Grolleau JL, Chavoin JP. Poland's syndrome and hand's malformations: about a clinic series of 37 patients. Ann Chir Plast Esthet 2005;50:138-145.