Table of Contents  
CASE REPORT
Year : 2014  |  Volume : 7  |  Issue : 1  |  Page : 82-84  

Poland syndrome with absent ribs


Department of Pulmonary Medicine, Burdwan Medical College, Burdwan, West Bengal, India

Date of Web Publication10-Dec-2013

Correspondence Address:
Kaushik Saha
Rabindra Pally, 1st Lane, P.O - Nimta, Kolkata - 700 049, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0975-2870.122795

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  Abstract 

Poland syndrome is a rare congenital disorder characterized by ipsilateral absence of pectoralis major muscle. This syndrome is associated with various anomalies such as ipsilateral syndactyly, brachidactyly, dextrocardia, herniation of lung, underdevelopment of upper ribs, aplasia or hypoplasia of breast, etc. Only few cases had been reported with absent ribs in Poland syndrome. We report a rare case of Poland syndrome presented to us with mal-development of his right hemithorax and weakness of right hand.

Keywords: Absent ribs, brachysyndactyly, poland syndrome


How to cite this article:
Ta RK, Saha K, Saha A, Ghosh S, Mitra M. Poland syndrome with absent ribs. Med J DY Patil Univ 2014;7:82-4

How to cite this URL:
Ta RK, Saha K, Saha A, Ghosh S, Mitra M. Poland syndrome with absent ribs. Med J DY Patil Univ [serial online] 2014 [cited 2019 Dec 5];7:82-4. Available from: http://www.mjdrdypu.org/text.asp?2014/7/1/82/122795


  Introduction Top


Poland syndrome is ipsilateral absence of pectoralis major muscle. [1] It is a very uncommon congenital anomaly. Sir, Alfred Poland first described this syndrome in a cadaver at Guy hospital in 1841. Currently, the incidence range between 1:7000 and 1:100,000 births. [2] The right side of the hemi-thorax is commonly involved in this syndrome. [3] This syndrome is associated with various anomalies such as ipsilateral syndactyly, brachidactyly, dextrocardia, herniation of lung, underdevelopment or of upper ribs, aplasia or hypoplasia of breast, etc. [4]


  Case Report Top


A 22-year-old young male presented with bulging of right anterior aspect of chest during coughing, weakness of right side along with mal-development of right hand and flattening of right anterior aspect of chest wall since birth. On examination, he was thin built with body mass index 23.31 (height 167 cm and weight 65 kg). Arm span was 161 cm and arm span (measured from mid-point of sternum) was 84 cm on left side and 77 cm on right side. Others vital were within normal limit. There was no familial history of similar disorder or any sort of congenital diseases. Other siblings (3 in number) were normal. There was brachysyndactyly of right hand and absence of sternal head of right sided pectoralis major muscle with flattening of anterior aspect of chest wall [Figure 1]a and b. There was no facial asymmetry, no scoliosis and Sprengal's deformity. His right sided anterior chest wall bulged out whenever he coughed and during respiration. On neurological examination, there was decrease in strength of all muscles of right upper limb. Although, patient's right hand function was impaired but he was able to perform activities of daily living (ADL) with left hand. Other systemic examination including, examination of lower limbs, hair and nails was within normal limit. His pulse-rate was 84/min and blood pressure was 140/90 mmHg, Chest X-ray (postero-anterior view) showed absence of antero-lateral part of 2 nd , 3 rd ,4 th and 5 th ribs associated with hyper translucency of left sided lung field [Figure 2]a. X-ray of the right hand showed hypoplasia of the main phalanx of the thumb, absence of the intermediate phalanx of the forefinger and middle finger and substitution of the intermediate phalanx of the annular and little finger with a small ossification nucleus [Figure 2]b. Chest computed tomography scan demonstrated subtotal absence of right chest wall including the right sided pectoralis major muscle with only preservation of thin intercostal muscle, the mediastinum appeared normal [Figure 3]. Ultrasonography of abdomen was normal and other laboratory tests were normal. Spirometry showed restrictive lung disease [forced expiratory volume in one second (FEV 1 )/forced vital capacity (FVC) 85, FVC 65% of predicted and FEV 1 80% of predicted]. Final diagnosis of Poland syndrome was made. Patient and his parents were educated about the disease and progressive resistive strengthening exercises of the right shoulder girdle muscles.
Figure 1: (a) Presence of brachysyndactyly of right hand and (b) absence of sternal head of right sided pectoralis major muscle with flattening of anterior aspect of chest wall

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Figure 2: Chest x-ray (a) showing absence of antero-lateral part of 2nd, 3rd, 4th and 5th rib associated with hyper translucency of left sided lung field and x-ray of the right hand (b) showing hypoplasia of the main phalanx of the thumb, absence of the intermediate phalanx of the forefinger and middle finger and substitution of the intermediate phalanx of the annular and little finger with a small ossification nucleus

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Figure 3: Computed tomography scan of chest showing subtotal absence of right chest wall including the pectoralis major muscle with only preservation of thin intercostal muscles

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  Discussion Top


Poland syndrome is also known as Poland's sequence or Poland's anomaly. It is a type of rare sporadic congenital syndactyly with absence of the pectoralis major muscle, and often linked to limb deficiencies. [5] The brachydactyly is due to hypoplasia of the middle phalanxes. Index and the middle finger most often involves in syndactyly but the thumb is usually normal. [6] Males are more often affected than females by nearly 2:1. [2] The effects are seen on the right side most often by nearly 5:3. [3]

The real etiology of the Poland syndrome is not yet known. Although, there are hereditary traits linked to some abnormalities of the hand such as polydactyly. [7] Aplasia of the pectoralis muscles and other associated chest defects like athelia, aplasia of costal cartilages are due to disturbance of early embryonic blood supply of sub-clavicular artery branches. [8]

A combination of the blockage of different branches could results in different manifestations of the Poland syndrome. It is well-known that thoracic wall is supplied by the medial thoracic branches, intercostals artery and the thoracic artery from axillary artery, the thoraco-acromial artery and the lateral thoracic artery. All these branches come from the subscapular artery or axillary artery. The disturbance of the blood supply is due to thrombus or embolus, which prevent the blood to arrive at the developing tissue. Another reason of blood supply interruption is the mal-development of vessels. [8] However, there have been case reports of Poland syndrome associated with atypical defects, which cannot be explained on the basis of compromised blood supply alone. On the other hand, Ferraro et al. described an abnormal presentation of the Poland's anomaly devoid of any vascular alteration, raising the question as to the exact pathogenesis of the Poland's syndrome. [9]

The rib cage may be entirely normal, or usually the chest wall is sunken on one side. The latter is due to hypo-plastic ribs and cartilages, which are deformed and thin. The most commonly involved ribs are II to IV, or III to V, but the second rib is less frequently affected as in our patient. Aplasia of the anterior portions of one to three ribs leads to severe chest wall depression; occurs in about 11-25% of patients. Rib defects may be present in 15% of patients with right-sided pectoralis major defects. The sternal ends of aplastic ribs may be fused together and the sternum may rotate toward the involved side, forming an "asymmetrical" contralateral pectus carinatum. The progression of the chest deformity occurs mostly during growth periods. Lung herniation is seen in 8% of the patients. In such patients, paradoxical motion of the chest wall may be of some clinical significance during stress or during severe pulmonary infections. The vital capacity may be as low as 48% of normal and may increase up to 68% of normal after surgical correction. Conventional anteroposterior radiography usually demonstrates a hyper-lucent lung on the involved side. A single case of giant bulla in the contralateral lung was described in a patient with left-sided Poland's syndrome. There is also a tendency for the heart to be shifted toward the unaffected side. [2]

Surgical intervention may be indicated for the following reasons: (1) unilateral depression of the chest wall and the possibility of its progression, (2) lack of adequate protection of the heart and lung, (3) paradoxical movement of the chest wall, (4) hypoplasia or aplasia of the female breast, and (5) cosmetic defect due to lack of the pectoralis major muscle and axillary fold in male patients. [2] Several reconstructive procedures are offered to correct the functional and structural deformities associated with this syndrome. As for the chest deformity, customized silicone prosthesis is simply and securely used. Transposition of the latissimus dorsi muscle for soft-tissue reconstruction has been used by many authors with acceptable aesthetic and functional results. [10] Whenever there is a large defect of the ribs and lung herniation, the chest wall should be stabilized by using subperiostially taken split rib grafts from the unaffected side, other bony allo-or auto-grafts, mesh-patch, or a combination of several of the above. Plastic procedures using ribs or prosthetic mesh alone are able to correct concave deformities, create a stable anterior chest wall, and prevent lung herniation. The involved hemi-thorax, however, will remain flatter unless a muscle flap transposition is added. Alloplastic materials such as stainless steel, titanium, Lucite, and fiberglass; synthetic materials such as Prolene mesh, Vicryl mesh, Gore-Tex, polypropylene, nylon, silicone, Teflon, acrylic, and silastic; and composite synthetic materials like Marlex mesh and methyl methacrylate are used now a days for chest reconstruction. [2]


  Conclusion Top


Poland syndrome is a rare entity and absence of ribs in this syndrome is even rarer. Correct education about this syndrome and effective ADL training is required to lead a productive life with this syndrome.

 
  References Top

1.Moir CR, Johnson CH. Poland's syndrome. Semin Pediatr Surg 2008;17:161-6.  Back to cited text no. 1
    
2.Fokin AA, Robicsek F. Poland's syndrome revisited. Ann Thorac Surg 2002;74:2218-25.  Back to cited text no. 2
    
3.Legbo JN. Poland's syndrome: Report of a variant. J Natl Med Assoc 2006;98:97-9.  Back to cited text no. 3
    
4.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:1597-602.  Back to cited text no. 4
    
5.Terhaar O, Micke O, Reimer P, Peters PE. Radiological and clinical aspects of Poland syndrome. Rofo 1996;164:88-90.  Back to cited text no. 5
    
6.Friedman T, Reed M, Elliott AM. The carpal bones in Poland syndrome. Skeletal Radiol 2009;38:585-91.  Back to cited text no. 6
    
7.Trosev K, Cervenka J, Gerberová E. Congenital dysplasia of the musculi pectorales associated with congenital hand and finger malformations of the ipsilateral upper limb. Acta Chir Orthop Traumatol Cech 1966;33:320-7.  Back to cited text no. 7
    
8.Bavinck JN, Weaver DD. Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies. Am J Med Genet 1986;23:903-18.  Back to cited text no. 8
    
9.Ferraro GA, Perrotta A, Rossano F, D'Andrea F. Poland syndrome: description of an atypical variant. Aesthetic Plast Surg 2005;29:32-3.  Back to cited text no. 9
    
10.Freitas Rda S, oTolazzi AR, Martins VD, Knop BA, Graf RM, Cruz GA. Poland's syndrome : d0 ifferent clinical presentations and surgical reconstructions in 18 cases. Aesthetic Plast Surg 2007;31:140-6.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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