IS case 521: Poland syndrome

Keith Forrest Dockery, MD, MS

University of Rochester


Imaging Sciences URMC 2010
Publication Date: 2010-09-10

History

Patient is a 39-year-old male on highly active anti-retroviral therapy (HAART) who presented with chest pain and shortness of breath to the Emergency Department. An initial chest radiograph was ordered, which revealed no acute infiltrate. Subsequently, the patient underwent computed tomography of the chest.

Findings

See figures

Diagnosis

Poland syndrome

Discussion

Poland syndrome is incidentally identified in this patient presenting for question of acute pulmonary disease. Plain radiographs of this patient have repeatedly been reported as normal. Prior CT reports failed to identify the syndrome, but obliquely suggest a congenital etiology for the absence of the right pectoralis muscle.

An understanding of the pathophysiology of Poland syndrome leads to a calculated search for associated abnormalities (Fig. 3). The primary findings of Poland syndrome are unilateral congenital absence of the sternocostal head of the pectoralis major muscle. Associated findings are variably expressed, but they are ipsilateral and include: absence/hypoplasia of the pectoralis major and minor muscle group; hypoplasia of the subcutaneous breast tissue and nipple; syndactyly and/or hypoplasia of the hand/digits; hypoplasia of the latissimus dorsi or other chest wall muscles; hypoplasia of the anterior ribs, 3rd through 5th (or 2nd through 4th); hypoplasia/aplasia of arm bones; dextrocardia; renal hypoplasia/absence.

One unifying, descriptive name is “pectoral-aplasia-dysdactylia syndrome.” Approximately 2/3rds are male and 2/3rds are right-sided. The occurrence is predominantly sporadic. The underlying pathophysiology favors hypoplasia of the subclavian artery (or its branches) during the 6th week of gestation, when upper limb buds are developing. Other etiologies and inheritance patterns have been described.

References

  1. Fokin AA, Robicsek F. Poland's syndrome revisited. Ann Thorac Surg. 2002 Dec;74(6):2218-25. PMID: 12643435

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