Case Reports

Poland Syndrome: A Congenital Abnormality Mimicking a Traumatic Injury


 

References

In addition to Poland syndrome, there are a number of congenital abnormalities that can also mimic traumatic chest injuries. Historically, surgeons have classified congenital wall deformities into one of five categories: Poland syndrome, pectus excavatum, pectus carinatum, sternal clefts, and generic skeletal and cartilage dysplasias (eg, absent ribs, rib torsion, vertebral anomalies).5-7 Of these categories, Poland syndrome, pectus excavatum, and some skeletal dysplasias cause anterior chest wall depression.5,6 Although these are examples of congenital thoracic wall abnormalities, one must also remember postoperative changes, which may also appear to be traumatic in origin. Examples of specific procedures are lumpectomy, mastectomy, rib resection, lung resection, or even cardiac surgery—all of which can alter the physical findings of the chest wall.

Conclusion

This report is an interesting case of an impaired patient presenting to the ED after a traumatic incident and unable to describe a past medical history of a congenital disorder. Although the patient was high functioning, as exemplified by his ability to complete normal adolescent activities such as skateboarding, he had a significant physical finding which appeared to correspond to the mechanism of his injury. He was initially thought to have a significant injury involving his chest wall, since secondary examination revealed a palpable defect. Although the patient was oxygenating well, and in no apparent distress, his altered mental status raised concerns about the accuracy of his report, with confusion and perseveration.

When a rare congenital abnormality imitates a traumatic condition, merely having the name of the condition—as we did when the family arrived—does not necessarily rule out the absence of a related deficit or injury. To better differentiate acute from preexisting physical deformities or deficits, one must gather and process multiple diagnostic clues. This is best accomplished by combining the presence or absence of symptoms (in this case, pain, dyspnea, or hemoptysis), physical examination findings (eg, ecchymosis, crepitance, flail segment), and supportive diagnostic tests (radiographs, CT, and echocardiograms). This approach will systematically eliminate or suggest acute traumatic diagnoses. With specific traumatic causes such as rib fracture, pneumothorax, or pulmonary contusion eliminated, one can expand the (nontraumatic) differential, keeping in mind the possibility of a congenital disorder.

Dr Martin is an emergency physician at Emergency Medical Associates of NY and NJ; and emergency medicine education director, Monmouth Medical Center, Long Branch, NJ.
Dr Martin reports no conflict of interest or financial arrangements.

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