Poland syndrome is a rare congenital disorder with absent or hypoplastic pectoralis major and hand anomalies. Dextroposition,female predisposition, and the left-sided anomalies in Poland syndrome are rarely reported in literature. We report a female babywho was born with chest wall defects, left hand anomalies, dextroposed heart, and hypoplastic ribs. She was diagnosed as Polandsyndrome and managed conservatively

Maria, Arti

Mittal, Hema Gupta

Singh, Yashvant

Tatawat, Hemant

English

Atharva Scientific Publications (E-Jounals)

Vol 4 | Issue 2 | Apr - Jun 2017 Indian J Child Health 268
Case Report
Poland syndrome: Atypical presentation and review of literature
Hema Gupta Mittal1, Yashvant Singh2, Hemant Tatawat1, Arti Maria1
From Departments of 1Neoantology and 2Radiology, Dr. RML Hospital & PGIMER, New Delhi, India
Correspondence to: Yashvant Singh, Department of Radiology, Dr. RML Hospital & PGIMER, New Delhi, India. 
E-mail: y_ashvant@yahoo.com
Received – 03 January 2017 Initial Review – 15 January 2017 Published Online – 27 January 2017
Poland syndrome is a rare congenital condition which manifests typically with the absence of sternocostal part of pectoralis major and ipsilateral hand defects [1]. Other 
commonly observed anomalies are shoulder girdle defects, breast and 
nipple anomalies, renal malformations, verterbral anomalies, etc., 
Sprengal deformity, Moebius syndrome, Klippel–Feil anomaly, 
lung tumors, and hematological malignancies are also reported 
with Poland syndrome [2]. The right-sided Poland syndrome 
and male predisposition are usually observed. Dextrocardia with 
Poland syndrome is rare and only 48 cases are reported worldwide 
till 2015 [3]. In the presence of dextrocardia and rib anomalies 
(2 or more), all cases of Poland syndrome reported till date are 
left sided. We report a newborn female baby diagnosed as with 
left-sided Poland syndrome with dextroposed heart, mesocardia 
and ipsilateral rib and hand anomalies.
CASE REPORT
A female baby product of a nonconsanguineous marriage 
was delivered at 38 weeks of gestation (appropriate for 
gestational age), by vaginal delivery to primigravidae mother 
without any significant antenatal history. There was no maternal 
or family history of congenital malformations or limb deformity 
or heart defects. After birth baby cried immediately with Apgar 
score of 9 at both 1 and 5 min.
On examination, newborn had respiratory distress 
(respiratory rate - 72/min) with subcostal and intercostals 
retraction, heart rate was 134/min with oxygen saturation (SpO2) 
91% on room air and mean blood pressure was 68/44 mmHg in 
the right arm. Anthropometry revealed birth weight of 2.42 kg 
(3rd to 10th centile), length (50.2 cm, 50th to 90th Centile), and 
head circumference (35.5 cm, 50th to 90th centile). Head to toe 
examination revealed depression on the left side of the chest wall 
suggestive of decreased subcutaneous tissue and muscle mass 
(Fig. 1a). There was no abnormality in the nipple or breast. The left 
hand was smaller with syndactyly between left index and middle 
finger and clinodactyly of the left little finger (Fig. 1b). On chest 
examination, bilateral air entry was equal with no added sounds. 
Heart sounds were equally heard on the right and left sternal border 
and there was no murmur. Examinations of abdomen, nervous 
system, and spine were within normal limits. Baby was started 
on exclusive breastfeeding and shifted to mother side (within 
24 h of life). Baby tolerated breast feeding well and maintained 
SpO2 more than 95% on room air. Tachypnea improved but chest 
retractions persisted due to asymmetry of chest.
A provisional diagnosis of dextrocardia with hand and chest 
abnormalities was made and chest radiograph, echocardiography, 
and computed tomography scan (chest) were planned. X-ray 
chest showed right-sided heart with hypoplastic 3rd and 4th ribs on 
left side (Fig. 1c). A two-dimensional echocardiography revealed 
dextroposed heart with mesocardia with situs solitus without 
other defects. Computed tomography (CT) chest revealed a 
dextroposed heart, reduced right side lung volume (Fig. 1d) and 
absent pectoralis major and pectoralis minor muscle on left side. 
No anomalies of vertebral column or mediastinal vasculature were 
noticed (Fig. 1e). Ultrasound Doppler studies and CT angiography 
also ruled out any subclavian artery stenosis or altered flow. 
There were no renal anomalies noticed in ultrasound abdomen. 
In the presence of absent pectoralis major and syndactyly in the 
left hand, we made a diagnosis of Poland syndrome. Female baby, 
dextroposed heart with mesocardia and hypoplastic ribs were 
other rare observations in our case.
DISCUSSION
The incidence of Poland syndrome varies from 1/10,000 to 
1/100,000 live births [4]. The incidence of isolated dextrocardia 
which is described as rotation of base – apex axis of heart 
ABSTRACT
Poland syndrome is a rare congenital disorder with absent or hypoplastic pectoralis major and hand anomalies. Dextroposition, 
female predisposition, and the left-sided anomalies in Poland syndrome are rarely reported in literature. We report a female baby 
who was born with chest wall defects, left hand anomalies, dextroposed heart, and hypoplastic ribs. She was diagnosed as Poland 
syndrome and managed conservatively.
Key words: Neonate, Pectoralis major, Poland syndrome, Dextrocardia
Vol 4 | Issue 2 | Apr - Jun 2017 Indian J Child Health 269
Mittal et al. Rare presentation of poland syndrome in newborn
to the right side is reported to be 1/30,000. Dextroversion is 
described as shifting of heart toward right hemithorax which 
may be accompanied by dextrocardia or not. Poland syndrome 
and dextrocardia coexist in about 11.5% of patients with 
Poland syndrome and only 48 cases of Poland syndrome with 
dextrocardia are reported till date [5]. Torre et al., in his study, of 
122 patients diagnosed of Poland syndrome studied pathogenesis 
of associated dextrocardia. He concluded that dextrocardia was 
always associated with left-sided two or more rib agenesis.
The exact sequence of events in those diagnosed of Poland 
syndrome with dextrocardia is still controversial. Most of the 
authors hypothesize that shifted vascular structures due to 
dextrocardia result in deficient blood supply on left side and 
hence associated anomalies of ribs, or muscle agenesis. Other 
more popular hypothesis suggests that chest malformations 
lead to dextrocardia. A weak chest wall due to rib hypoplasia or 
reduced and sunken chest in the absence of rib hypoplasia also 
reasonably leads to dextrocardia. Cardiac dextroposition in the 
absence of complex heart defects observed in Poland syndrome 
appear to be a result of pure mechanical displacement. In a study 
by Sepulveda, serial antenatal ultrasounds of babies diagnosed 
of Poland syndrome showed late occurrence of dextrocardia 
at 31 weeks as compared to other thoracic and hand defects [6]. 
Previous antenatal ultrasound at 21 weeks did not show any 
heart position defects. In our case, we found dextroposition with 
mesocardia only.
Proposed genetic inheritance of Poland syndrome is sporadic 
mutation with paradominant inheritance or autosomal lethal gene 
mosaicism. Familial occurrence is also reported [7]. The most 
accepted pathogenesis of Poland syndrome is interrupted vascular 
supply by subclavian or vertebral artery or their branches. Bavinck 
and Weaver describe subclavian artery disruption sequence as a 
common mechanism for Poland syndrome, sprengel deformity, 
Moebius syndrome, Klippel–Feil anomaly, etc. [8]. The absence 
of associated heart defects even with dextrocardia decrease 
morbidity in these patients. There are no life-threatening 
anomalies reported with Poland syndrome, and hence, life 
expectancy is unaffected. Management of Poland syndrome 
includes custom implant for pectoralis muscle using computer 
aided design. A virtual implant matching the patient is created. 
For subcutaneous and mammary atrophy surgical techniques 
such as tissue expansion and lipofilling silicon breast implants 
are recommended.
REFERENCES
1. Yiyit N, Isitmangil T, Saygin H. Eight patients with multiple bilateral 
thoracic anomalies: A new syndrome or bilateral Poland’s syndrome? Ann 
Thorac Surg. 2014;97(5):1758-63.
2. Goodman RM, Gorlin RJ. Poland anomaly. The Malformed Infant and 
Child. New York: Oxford University Press; 1983. p. 74-5.
3.	 Yiyit	N,	Işıtmangil	T,	Arıbal	S.	Is	isolated	dextrocardia	a	feature	of	left-sided	
Poland’s syndrome? Turk Gogus Kalp Dama. 2015;23(4):700-7.
4. Stevens DB, Fink BA, Prevel C. Poland’s syndrome in one identical twin. 
J Pediatr Orthop. 2000;20:392-5.
5. Torre M, Baban A, Buluggiu A, Costanzo S, Bricco L, Lerone M, et al. 
Dextrocardia in patients with Poland syndrome: Phenotypic characterization 
provides insight into the pathogenesis. J Thorac Cardiovasc Surg. 
2010;139(5):1177-82.
6. Sepulveda W. Poland syndrome: A rare cause of cardiac dextroposition in 
the fetus. Prenat Diagn. 2009;29(9):903-5.
7. 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;149A(7):1597-602.
8. Bavinck JN, Weaver DD. 7 Subclavian artery supply disruption sequence: 
Hypothesis of a vascular aetiology for Poland, Klippel-Feil, and Mobius 
anomalies. Am J Med Genet. 1986;23(4):903-18.
Funding: None; Conflict of Interest: None Stated.
How to cite this article: Mittal HG, Singh Y, Tatawat H, Maria A. Poland 
syndrome: Atypical presentation and review of literature. Indian J Child 
Health. 2017; 4(2):268-269.
Figure 1: (a) Chest wall depression on left side, (b) syndactyly between index finger and middle finger in left hand, (c) X-ray chest showing 
hypoplastic 3rd and 4th ribs and dextrocardia, (d) computed tomography coronal section showing dextroposed heart, mesocardia, reduced right 
lung volume and absence of any subclavian artery narrowing, (e) computed tomography chest axial section showing absence of pectoralis 
major and minor on left side 
a b
c d e


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