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Alpha 1-antitrypsin deficiency
Autism and Aspergers Syndrome
Benign Infantile Epilepsy
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Duchenne Muscular Dystrophy
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Nature of the Genetic Difficulty
Is there a point mutation, or any insertion/deletion entirely inside one gene? Is there a (gene or genes) missing? A whole chromosome extra, missing, or both? Or might the gene be extended in length?
Basic Facts of Disease
Poland Syndrome, or the Poland Anomaly is normally categorized as a genetic syndrome that results in lack of the pectoralis major muscle unilaterally, as well as but not exclusively included, a webbed hand on the same side. The syndrome tends to affect the right side more often than the left side, and is more prevalent in males than in females. Babies are afflicted with Poland Syndrome anywhere from 1 in 7,000 to 1 in 100,000 births. The genetic cause of Poland Syndrome is unknown. However, theories have surfaced regarding the syndrome. Caused by arterial blockage near the collarbone on the 46th day post-conception. Still, no actual origin can be determined at this time. Poland Syndrome often goes undiagnosed until puberty when the victim may notice pectoral abnormality. Also, skin on the problematic side may be underdeveloped, and hair may be missing under the armpit. In rare cases, ribs may be absent. Research has shown that Poland Syndrome is often passed down familialy, therefore building upon it's argument of genetic inheritance.
HIstory of Poland Syndrome According to Wikipedia
"It was first named in 1962 by Patrick Clarkson, a
born, British plastic surgeon working at
Queen Mary's Hospital
, London. He noticed that three of his patients had both a hand deformity and an underdeveloped breast on the same side. He discussed this with his colleague at
, Dr Philip Evans, who agreed that the syndrome was "not widely appreciated". Clarkson found a reference to a similar deformity published by
, over a hundred years earlier in Guy's Hospital reports, in 1841.
Clarkson was able to find the hand specimen dissected by Poland, which was still held in the hospital pathology museum. Poland had dissected a convict called George Elt, who was said to be unable to draw his hand across his chest. Poland noted the chest wall deformity, and this was illustrated in his article; the hand was also dissected and preserved for posterity in Guy's Hospital museum where it remains today. It cannot be truly said that Poland described this syndrome because he only described one isolated case. Clarkson published his series of three cases and named the syndrome after Poland in his article.
Poland Syndrome is not fatal. In most cases, reconstructive plastic surgery may help alleviate some of the more aesthetically displeasing features of the anomaly. Psychological treatment and physical therapy may also help an afflicted person get through their day happier, healthier, and more capable than before.
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