Table of Contents

HK J Paediatr (New Series)
Vol 18. No. 1, 2013

HK J Paediatr (New Series) 2013;18:58

Clinical Quiz Answer

What is the Diagnosis?

M Ozcetin, M Karaci, T Keskin, A Altunay, I Serifoglu


Figure 1 shows chest asymmetry with hypoplastic left pectoralis muscles and left nipple while Figure 2 shows brachysyndactyly of his left hand. In Figures 3 & 4, there is dextrocardia, absent pectoral musculature on the left side, without abnormalities of ribs and sternum. Other examination of the child, including neurological examination, was normal, and this excludes Moebius syndrome and Klippel-Feil syndrome that are commonly associated with Poland syndrome.

Poland syndrome, a rare congenital syndrome, is usually characterised by the absence or hypoplasia of the breast or nipple, unilateral absence of pectoralis major muscle and varying degrees of congenital upper extremity deformities.1 The syndrome is usually sporadic but families with an autosomal dominant mode of inheritance have been reported.2 The incidence is estimated to be 1/30000 and 1/32000.3 It is more likely to have been on the right side of the body, and is more common in males than females.1,3 The underlying etiology is unknown but is hypothesised to be related to the interruption of subclavian blood flow in early embryonic period.4 The clinical synopsis of Poland syndrome is summarised in Table 1.5-7 Commonly the muscle agenesis in Poland syndrome involves pectoralis major and minor muscles,8 which is easily diagnosed by physical examination. It may be accompanied by the absence/hypoplasia of the ipsilateral nipple and the absence of the cartilage sections of 2nd/3rd /4th or 3rd/4th/5th ribs.8,9 Computed tomography and chest X-ray are useful to detect any associated chest wall deformities. In 2001, Al-Qattan et al classified the hand anomalies associated with Poland syndrome7 and our patient's hand anomaly belongs to type 3 according to this classification. Individual patients have been reported to have tumour/malignancy, but the risk of occurrence is still unknown.

Interestingly most patients with Poland syndrome have right sided involvement but our patient is affected at his left side. Fraser et al reported that 23% of patients with left side affected had dextrocardia10 whereas in general dextrocardia is found in only ~11% of patients with Poland syndrome regardless of the side of involvement.9

The treatment of Poland syndrome is limited to cosmetic operations of chest wall defects especially the pectoral area, and the hand anomalies.

Table 1 Malformations that may co-exist with Poland syndrome
System Malformations
Thoracic Pectoral muscle hypoplasia, other thorax muscles hypoplasia, breast abnormalities (30%), thoracic depression, and/or paradoxical motion in the thorax (11-25%), abnormalities of the ribs, clavicle and sternum, Sprengel's deformity, pectus excavatum and carinatum, thoracic teratoma, pleural fibroma, lung herniation (8%)
Skeletal system Upper limb abnormalities (hypoplasia and brachysyndactyly) (13-56%), gluteal hypoplasia, popliteal webs, club foot, toe syndactyly
Cardiovascular Dextrocardia, atrial septal defect
Craniofacial Mandibular prognathism, craniofrontonasal dysplasia, epicanthus, strabismus, ptosis, external ear anomalies, seizures
Gastrointestinal Hernia, ulcerative colitis, pyloric stenosis, liver herniation
Genitourinary Renal agenesis, ureteral reflux, undescended testes
Spinal Scoliosis, hemivertebrae
Skin/hair Absent axillary hair, skin dimples, hairy naevus, Adams-Oliver syndrome (curls aplasia)
Blood/lymphatic Thrombocytopenia, leukaemia, lymphoma, spherocytosis

References

1. Fokin AA, Robicsek F. Poland's syndrome revisited. Ann Thorac Surg 2002;74:2218-25.

2. Stevens DB, Fink BA, Prevel C. Poland's syndrome in one identical twin. J Pediatr Orthop 2000;20:392-5.

3. Lasko D, Thompson WR, Buckner DM, Sola JE. Titanium mesh prosthesis repair ofsymptomatic Poland syndrome in a premature infant. J Pediatr Surg 2008;43:234-7.

4. Bouwes Bavinck JN,Weaver DD. Subclavian artery supply disruption sequence: hypothesis of a vasculer etiology for Poland, Klippel-Feil, and Moebius anomalies. Am J Med Genet 1986;23:903-18.

5. Mojallal A, La Marca S, Shipkov C, Sinna R, Braye F. Poland syndrome and breast tumor: a case report and review of the literature. Aesthet Surg J 2012;32:77-83.

6. Kurt Y, Demirbas S, Uluutku AH, Akin ML, Celenk T. Poland's syndrome and gastric cancer: report of a case. Eur J Cancer Prev 2006;15:480-2.

7. Al-Qattan MM. Classification of hand anomalies in Poland's syndrome. Br J Plast Surg 2001;54:132-6.

8. Freitas Rda S, o Tolazzi AR, Martins VD, Knop BA, Graf RM, Cruz GA. Poland's syndrome: different clinical presentations and surgical reconstructions in 18 cases. Aesthetic Plast Surg 2007;31:140-6.

9. Torre M, Baban A, Buluggiu A, et al. Dextrocardia in patients with Poland syndrome: phenotypic characterization provides insight into the pathogenesis. J Thorac Cardiovasc Surg 2010;139:1177-82.

10. Fraser FC, Teebi AS, Walsh S, Pinky L. Poland sequence with dextrocardia: Which comes first? Am J Med Genet 1997;73:194-6.

 
 

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