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Poland Syndrome and Pregnancy/Poland Sendromu ve Hamilelik.


Poland syndrome (OMIM 173800), a rare congenital syndrome with incidence between 1/10.000-100.000, was first described by Alfred Poland in 1841 (1,2). It consists of unilateral aplasia/hypoplasia of pectoralis major muscle and accompanying defects of other thoracic muscles, ribs, and/or ipsilateral upper extremity at varying frequency and degrees (2). Among these abnormalities, it is plausible to expect that some of these can cause respiratory function problems under certain conditions like anesthesia and pregnancy: dextrocardia, scoliosis, pectus carinatum, pectus excavatum, lung herniation, paradoxical respiration (3). Our pregnant case did not have neither of the latter, however her respiratory complaints were severe enough to cause iatrogenic preterm delivery.

Case Report

A written informed consent was obtained from patient for this presentation. An 18-yr-old gravida 1, parity 0 patient with a known diagnosis of Poland syndrome were presented at her 30th weeks of gestation with shortness of breath. Her medical history was unremarkable other than Poland syndrome. Her physical examination was normal except absent pectoralis major muscle, short forearm, hypoplastic hand, brachysyndactyly, second-third finger hypoplasia, and atrophic breast on the right, components of her Poland syndrome diagnosis (Figure 1, 2). Also, minimally decreased respiratory sounds noticed on auscultation on the affected side. Complete blood count and routine laboratory evaluation were in normal range. Karyotype analysis and florescent in situ hybridization (FISH) for chromosome 11q were also normal. Obstetric ultrasonography and umbilical artery Doppler evaluation were normal. During her follow up examination in one week, she complained about worsening dyspnea. Patient was hospitalized for close observation and detailed evaluation. Respiratory function tests, pulse oximetry readings, arterial blood gas analysis, electrocardiography, non-stress test were normal. There was minimal anterior septum hypokinesis, and first degree pulmonary valve regurgitation on echocardiography. For a possible preterm delivery, antenatal maternal steroid administration was achieved by two doses of betamethasone 12 mg (Celestone Chronodose; Merck Sharp&Dohme, New Jersey, USA) via intramuscular route. Patient's respiratory complaints progressed further, being orthopneic at 32 weeks of gestation and decision to intervene by cesarean delivery was made. After delivery, patient's complaints dramatically resolved with no complication.


Etiology of Poland syndrome remains unknown. Subclavian artery disruption and abnormal perfusion related aplasia/hypoplasia of regional muscles and other tissues between 42-47 days of embryogenesis is commonpopulartheory(4). However, this is challenged by a latest case report with intact thoraco-acromial arteries and muscle fascia, suggesting an alternative theory of paraxial mesenchyme developmental failure (5). Recently, monozygotic twins with this syndrome were found to have 11q12.3 deletion, pointing five candidate genes in the deleted region (6). The majority of Poland syndrome cases are sporadic however there are some familial clustered cases implying different inheritance patterns (7). Our case has normal karyotype and FISH result and she did not mention any relatives with similar findings. Majority of the surgical intervention reports cite cosmetic reasons for indication of surgery (2,8). Apart from scarce cases of lung herniation, recurrent pneumothorax and paradoxical respiratory movements, serious cardiac or pulmonary complaints have not been reported (3). In addition, no pregnant case reports could be spotted in the PubMed search. Our case had a mild complaint of dyspnea in midtrimester and worsened progressively with advancing gestational age. Normal respiratory function tests, echocardiography and arterial blood gas analysis held us from earlier intervention even though patient's subjective complaint was impressive. Significant respiratory tract changes are expected during pregnancy. Functional residual capacity, residual volume, and expiratory reserve volume decreases. Diaphragm rises approximately 4 cm and thoracic cage girth increases 6 cm. In our case, with enlarging uterus, it is possible that elevation and limitation of diaphragm movement was more prominent and negatively affected stabilization of affected right hemithorax, caused significant respiratory discomfort. Even though we could not document respiratory dysfunction with tests, it seemed that we would see deteriorated test results if preterm delivery was held for longer. Our case presentation must alert clinical thinking in a way that even benign conditions like Poland syndrome may complicate pregnancy with their unexpected effect on normal pregnant physiologic adaptations. Poland syndrome can cause significant respiratory discomfort during pregnancy that may not be reflected on respiratory function tests and can alter obstetric management. Therefore, early baseline respiratory function tests may be indicated in pregnant patients with Poland syndrome in order to discern worsening results (even in the normal range) with advancing gestational age.


Informed Consent: A written informed consent was obtained from patient for this presentation.

Peer-review: Externally and internally peer-reviewed.

Authorship Contributions

Surgical and Medical Practices: E.Z., B.B., Concept: E.Z., S.D.S., Design: E.Z., Data Collection or Processing: B.B., Analysis or Interpretation: E.Z., S.N.A., Literature Search: E.Z., S.D.S., Writing: E.Z., S.N.A.

Conflict of Interest: No conflict of interest was declared by the authors.

Financial Disclosure: The authors declared that this study received no financial support.


(1.) Baban A, Torre M, Bianca S, Buluggiu A, Rossello MI, Calevo MG, et al. Poland syndrome with bilateral features: case description with review of the literature. Am J Med Genet A 2009; 149: 1597-602.

(2.) Yiyit N, Isitmangil T, Oksuz S. Clinical analysis of 113 patients with poland syndrome. Ann Thorac Surg 2015; 99: 999-1004.

(3.) Sethuraman R, Kannan S, Bala I, Sharma RK. Anaesthesia in Poland syndrome. Can J Anaesth 1998; 45: 277-9.

(4.) Cingel V, Bohac M, Mestanova V, Zabojnikova L, Varga I. Poland syndrome: from embryological basis to plastic surgery. Surg Radiol Anat 2013; 35: 639-46.

(5.) Sparks DS, Adams BM, Wagels M. Poland's syndrome: an alternative to the vascular hypothesis. Surg Radiol Anat 2015; 37: 701-2.

(6.) 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.

(7.) OMIM Online Mendelian Inheritance of Man

(8.) Sharma CM, Kumar S, Meghwani MK, Agrawal RP. Poland syndrome. Indian J Hum Genet 2014; 20: 82-4.

[iD] Emre Zafer, [iD] Selda Demircan Sezer, [iD] Sumeyra Nergiz Avcioglu, [iD] Burcu Bicakci

Adnan Menderes University Faculty of Medicine, Department of Obstetrics and Gynecology, Aydin, Turkey

Address for Correspondence/Yazisma Adresi:

Emre Zafer MD,

Adnan Menderes University Faculty of Medicine, Department of Obstetrics and Gynecology, Aydin, Turkey

Phone : +90 530 435 89 09

E-mail :


13th National Gynecology and Obstetrics Congress, May 11-15 2015, Antalya, poster presentation.


Poland syndrome, pregnancy, preterm

Anahtar Kelimeler

Poland sendromu, hamilelik, preterm

Received/Gelis Tarihi : 05.06.2015

Accepted/Kabul Tarihi : 04.08.2015

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Title Annotation:Case Report
Author:Zafer, Emre; Sezer, Selda Demircan; Avcioglu, Sumeyra Nergiz; Bicakci, Burcu
Publication:Meandros Medical and Dental Journal
Date:Sep 1, 2018
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