There is a rare and perplexing congenital condition known today as Poland’s Syndrome. This extremely unusual disorder that is present at birth falls very near and dear to my heart. I will explain in later paragraphs.
An anatomy student by the name of Alfred Poland made the first documented observation in 1841 at Guy’s Hospital in London. Alfred Poland discovered this extraordinary and unexplored abnormality while dissecting the cadaver of a convict that was hung for murder. The description Alfred Poland first provided was that of a congenital thoracic anomalies involving the pectoralis major and pectoralis minor with additional abnormalities on the affected side of the body (ipsilateral) consisting of webbed or fused phalanges (syndactyly).
The term Poland’s Syndactyly was used to describe this disorder until 1967 when Baudinne renamed it, Poland’s Syndrome. It was felt that the condition would be more accurate if referred to as a syndrome because there were many anomalies then just syndactyly. Today, the laymen’s definition of Poland’s Syndrome consists of a developmental disorder that is present at birth. It is characterized by the absence or underdevelopment of chest muscles (pectoralis major, pectoralis minor) and abnormally short, webbed fingers or absence of middle phalanges. Additional finding might include underdeveloped or absence of one nipple or breast on the affected side. More extreme cases exhibit upper underdeveloped ribs and or an abnormally short arm with underdeveloped forearm bones. Unfortunately the limitation of Poland’s Syndrome deformity doesn’t always cease here. The medical society has documented isolated cases over the past 100 years of chest wall disfigurement, lung herniation and spine curvature. Abnormalities involving the clavicle, scapula, kidney, testes, heart and associated occurrences of leukemia were also observed in patients with Poland’s Syndrome.
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The most recent medical studies given on this irregularity in the past 40-50 years has confirmed that Poland’s Syndrome begins within the thorax and is confined unilaterally. Any additional unilateral abnormalities affecting the extremities or nearby musculoskeletal components vary in severity. For an accurate diagnosis of Poland’s Syndrome to be made it must include the congenital partial or total absence of the pectoralis major muscle with or without the loss of the pectoralis minor muscle. The very little research and studies that have been done on this infrequent condition within the medical community have agreed that the ratio of affected males to females is 3 to 1. In accession, the studies revealed that the congenital deformity has a 75% chance of being prominent on the right side. The origin of Poland’s Syndrome is still unknown. Over the years there have been many theories as to the cause of this sporadic mutation which prays on approximately 1 in 30,000. Many have hypothesized that Poland’s Syndrome is heredity in nature. Even though a number of cases have been reported involving multiple family members, there isn’t enough information within the studies to prove a genetic hypothesis.
The most sensible theory that has been established relates to fetal development during the sixth week of gestation. It is widely known among the medical profession that the right side of the developing vascular tree suffers more anomalies then the left. Because of this known fact, Bouwes-Bavnick and Weaver made a possible correlation implicating the developing vascular tree as the culprit. They stated that the cause of Poland’s Syndrome could be explained by an isolated defect in the development of the vascular tree. They stated that the key time period for the development of the vascular is the sixth week and that also happens to be one of the most sensitive points of fetal growth. It is the sixth week of gestation that is the point of vascular differentiation from the sixth vascular arches to the matured vascular pattern. It is at that time that the vertebral and subclavian arterial branches become distinct entities. They hypothesized the fetal phenomenon to a specific location within the maturing vascular tree, which will result in a predictable malformation. I know this vascular tree theory doesn’t sound all that convincing and that is why, when a child is diagnosed with Poland’s Syndrome the medical doctors still describe the cause as unknown.
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Even though Poland’s Syndrome can effect up to five of the bodies systems (muscular, skeletal, integumentary, nervous and respiratory) it has little disability associated with it. Surgery is sometimes sought after mostly for cosmetic purposes. Depending on the severity of the syndrome, surgery can sometimes improve functional capacity of the hand. Hand surgery involving separation of webbed fingers is usually initiated by the age of one and is completed by the time the child enters school. One of the reasons for this is because manipulation of parts is much easier at younger ages. Surgical correction of the thoracic and chest area creates a more normal chest contour and is performed during or after the teenage years. This surgery involves transposition of the latissimus dorsi muscle flap. Which is stretched around and tacked to fill in the absence of the pectoralis. In female patients a breast prosthesis is then inserted. I am a 29 year old confident female with Poland’s Syndrome that has lived a happy fulfilling life so far. I have gone through numerous surgeries since I was 8 months old. My last four surgeries were strictly voluntary and totally cosmetic. The cover sheet of this paper illustrates the extent of the syndrome affecting my right extremity. I do have to say that growing up with Poland’s Syndrome was very difficult. I constantly had to contend with ignorant peers voicing their opinions and vulgar comments. I now know that people who display that verbal behavior are nothing but insecure themselves. I have those people to thank for my independent, strong and tenacious nature.
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