Poland Syndrome - Poland syndrome is a rare, sporadic congenital defect resulting in a syndrome that combines aplasia or hypoplasia of the sternocostal portion of the pectoralis major muscle with at least one of the following: syndactyly, brachydactyly, absence of ribs, chest wall depression, amastia, absence of axillary hair, and dextrocardia.
The patient had been diagnosed with Poland syndrome at birth. He had undergone a Z-plasty of his right hand as an infant to correct a syndactly. He now has full grip strength and hand mobility although his right hand is visibly smaller than his left. The lack of the pectoralis major muscle could predispose the patient to risk of rib trauma, especially during contact sports such as football. Surgical correction is usually reserved to correct significant chest wall hypoplasia from rib agenesis or to correct a strength deficit of the upper extremity. Surgical treatment can also be reserved for female subjects that desire symmetrical breast tissue, in which a latissimus dorsi muscle transfer or a mammary prosthesis is inserted, depending on the severity. One study involving fifty eight patients noted that none of the subjects had described any evident weakness, even in the rigors of military duty. On gross exam, our patient's muscle strength in arm adduction and internal rotation was equivalent, indicating compensation of the secondary musculature including pectoralis minor, latissimus dorsi, and serratus anterior. Also, he did not have any evidence of rib agenesis or dextrocardia with palpation or on visualization with ultrasound.
After an extensive literature search, specific guidelines for clearance to play and considerations in athletes with Poland Syndrome could not be found. The patient was cleared to participate in collegiate football without further testing and did not experience any isolated right upper extremity injuries during the season. Ultrasound was performed after his football season which showed the sternocostal region of his right pectoralis major muscle is clearly absent.
Poland Syndrome is a rare congenital abnormality. In 1841, the syndrome was discovered by Alfred Poland when he was 19 years old at Guy's Hospital in London, England. At that time, Poland noticed that his anatomy subject was missing the entire sternal and costal regions of his pectoralis-major muscle with normal appearance of the clavicular origin. However, his original description did not outline the breast hypoplasia or hand deformities that are now recognized. There is a slight male predilection of 2:1, with the incidence ranging from 1 in 10,000 to 1 in 100,000. At this time, the etiology is unknown but speculated to be secondary to vascular development anomalies during the 6th week of gestation, with hypoplasia of the subclavian artery. As well, the right side is affected more often than the left, however, the syndrome causes more of an aesthetic concern than an actual weakness or disability of the affected muscle. This is believed to be secondary to surrounding musculature compensating for the lack of strength from the pectoralis major. In rare cases, the disease has been linked to ipsilateral renal agenesis, leukemia, or ipsilateral upper extremity hemangiomas. If unequal upper extremities are observed, this diagnosis should be considered. Further cardiac and musculoskeletal evaluation should be completed as well.
This case highlights the utility of diagnostic ultrasound in even the most rare of diagnoses. Here it was used to solidify the diagnosis of Poland Syndrome and perhaps helped the patient avoid a costly confirmatory CT or MRI.
Neligan, P.C. Plastic Surgery. Vol 23.2. 548-557.
Poland Syndrome. (2013, March). Genetics Home Reference: ghr.nlm.nih.gov.
Schwartzstein, R.M. (2013, July 3). Disease of the chest wall. Uptodate.
Seyfer, A.E., Fox, J.P., & Hailton, C.G. (2010). Poland Syndrome: Evaluation and Treatment of the Chest Wall in 63 Patients. Plastic and Reconstructive Surgery VOl 126 (3), 902-911.
Wilhelmi, B.L. (2014, September 15). Poland Syndrome. Medscape.
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