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1999-05-14-16 Poland syndrome © Jeanty www.thefetus.net/

Poland syndrome

Updated 2006-01-18 by Juliana Leite, MD

Original text 1999-05-07 Philippe Jeanty, MD, PhD & Sandra R Silva, MD

Synonyms: Poland-Moebius syndrome, subclavian artery supply disruption sequence.

Definition: Poland syndrome consists in a congenital no genetic anomaly of unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Ispilateral aplasia of the breast exists is females. Dextrocardia has been reported in several cases.

Incidence: The incidence, reported by different authors, ranges from 1:10,000 to 1:100,000. It is observed more frequently in males than in females; the right side of the body is affected more often than the left.

Etiology: The etiology of this syndrome is still discussed. Most of the cases are sporadic, but a familial incidence is described too. Genetic causes, vascular compromise in the subclavian arteries, during early stages of embryogenesis, and teratogenic effects of environmental xenobiotics (cigarette smoking by pregnant women) are different etiologic factors considered.

Diagnosis: The chest asymmetry and symbrachydactyly can be recognized, but the long bones are probably too normal to be recognized.

Genetic anomalies: Not established.

Differential diagnosis: Differential diagnosis in the fetus is limited to those conditions characterized by body asymmetry, such as CHILD syndrome, and to the cluster of anomalies caused by the occurrence of thoracic hemivertebrae, such as chest asymmetry and rib hypoplasia. However, in cases of isolated thoracic hemivertebrae, upper limb malformations are usually absent. The real problem is represented by CHILD syndrome.

Prognosis: Aside from the anomalies of the extremity, the prognosis is excellent.

Management: Standard prenatal care is not altered. Confirmation of diagnosis after birth is important for genetic counseling.

Reference:


[1] Hazir T, Malik MS: Poland anomaly with dextrocardia: a case report. JPMA J Pak Med Assoc 1996 Aug;46(8):181-2

[2] Burkhardt H, Buss J:  Dextrocardia and Poland syndrome in a 59-year-old patient. Z Kardiol 1997 Aug;86(8):639-43

[3] Czeizel, A.; Vitez, M., Lenz, W. : Birth prevalence of Poland sequence and proportion of its familial cases. (Letter) Am. J. Med. Genet. 36: 524, 1990.

[4] Bouwes Bavinck, J. N.; Weaver, D. D. : Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Moebius anomalies. Am. J. Med. Genet. 23: 903-918, 1986.

[5] Sferlazza SJ, Cohen MA: Poland"s syndrome: a sonographic sign AJR Am J Roentgenol 1996 Dec;167(6):1597

[6] Risseeuw GA, Janevski B, Meradji M, Maertzdorf W, Sanches H, Aarsen RS Poland"s syndrome. Including ultrasonography of the pectoralis muscle as a new diagnostic modality. J Belge Radiol 1985;68(3):231-6

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