Poland syndrome is usually sporadic, although rare familial cases have been described 1. It is rare, with an estimated incidence of 1:36,000-50,000 1. There does not appear to be a side or gender predilection.
The abnormality is usually evident at birth due to an asymmetry of the chest and frequent and ipsilateral abnormalities, most frequently syndactyly 2. Spectrum of abnormalities includes:
- aplasia or hypoplasia of
- upper limb abnormalities
No definite cause has as yet been identified, although it is thought to result from an isolated vascular insult in early gestation (involving embryonic subclavian and vertebral arteries).
May be seen as hypoplasia of the breast or the pectoralis major muscle (thus absent on MLO view).
On chest radiographs, Poland syndrome is one of the classic causes for a unilateral hyperlucent hemithorax, and should be considered when other causes do not explain asymmetry of the chest.
Although clinical examination usually suffices to make the diagnosis, cross-sectional imaging will elegantly outline abnormalities.
Treatment and prognosis
The condition is benign and depending on the degree of involvement of the upper extremity may be asymptomatic. Cosmetic reconstructive surgery may be considered (e.g. breast implant).
History and etymology
It was first described by Sir Alfred Poland, English surgeon (1822-1872), in 1841, after he dissected the body of a convict named George Elt at Guy's Hospital 1.
For hypoplastic breast/absent tissue on one side on mammography, consider:
- amazia: absence of breast parenchyma and
amastia: absence of breast tissue
- can occur from an excision of a pre-puberal breast bud or from chest wall irradiation during childhood
For a unilateral hyperlucent hemithorax on a chest radiograph see the main article: unilateral hyperlucent hemithorax.
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- 3. Parker DL, Mitchell PR, Holmes GL. Poland-Möbius syndrome. J. Med. Genet. 1981;18 (4): 317-20. J. Med. Genet. (link) - Free text at pubmed - Pubmed citation
- 4. Paredes ES. Atlas of mammography. Lippincott Williams & Wilkins. (2007) ISBN:0781764335. Read it at Google Books - Find it at Amazon
- 5. Pisteljić DT, Vranjesević D, Apostolski S et-al. Poland syndrome associated with 'morning glory' syndrome (coloboma of the optic disc). J. Med. Genet. 1986;23 (4): 364-6. J. Med. Genet. (link) - Free text at pubmed - Pubmed citation
- 6. Friedman T, Reed M, Elliott AM. The carpal bones in Poland syndrome. Skeletal Radiol. 2009;38 (6): 585-91. doi:10.1007/s00256-008-0638-x - Pubmed citation