令人難以置信的十大畸形病例(上)

Whether deformities are caused by genetics or environmental factors, they spark curiosity and awe throughout the world. Many who have them have accepted their differences and led fulfilling lives. Some have undergone risky surgeries to change their appearance. Some have joined the circus and embraced the label "freak" to make living. Others have concealed themselves to avoid people's reactions.

世界上所有人都對畸形(不論是先天還是後天環境所致)抱着一種既好奇又畏怯的心態。很多畸形患者接受了他們自身的"與衆不同"，努力讓自己過得充實快樂。他們中的一些人冒着巨大的風險做整形手術，一些人則加入馬戲團，上演一場與衆不同的"畸形秀"，另一些人則封閉自我，以避免人們的指指點點。

neous Horns

10.皮角

Cutaneous horns (cornu cutaneum) result when keratin manifests in a conical shape and protrudes outward from the skin. Lesions found at the base of these horns may be malignant or benign.

皮角是由錐形角質物異常增多而形成的突起狀角化性皮損，有時表現爲良性表皮增生，但偶可見惡性病變。

When cutaneous horns grow, they tend to be on people with fair skin, at an average age of 50. Sun-exposed areas of skin are most susceptible. A biopsy can help determine the cause because cutaneous horns are related to a variety of medical issues. Possibilities range from verruca to Bowen's disease. The majority of horns are benign, but about 20 percent are cancerous, and another 20 percent are people even choose to let their benign horns grow. If a horn does sprout on your forehead, you can at least now rest assured that you're probably not turning into a demon.

皮角常見於50歲左右的老年人，多長在皮膚曝光處。一般還要通過"活體組織檢查"(biopsy)來分析其病因，因爲它可能是一些疾病的併發症，比如病毒疣(verruca)或是博文氏病(Bowen's disease)。皮角多呈良性，但20％的皮角會發生癌變，另有20％屬於癌前病變。一些人甚至放任良性皮角不管，任其自由生長。如果前額當真長出"角"來，那患者倒還可以鬆一口氣，至少他不用擔心自己會變成什麼怪物。

idia

9.無虹膜畸形

Black eyes aren't necessarily a sign of pure evil. A condition called aniridia can cause absence of color in the iris, which may lead to weakened vision and sensitivity to light. This figures, as the literal translation of aniridia is "without iris." Further conditions, such as glaucoma and cataracts, are likely to occur along with aniridia. Sufferers may be legally blind, may see well enough to drive, or may even have 20/20 vision.

黑洞洞的眼睛並不一定就是邪惡的象徵，一種被稱爲"無虹膜"的畸形病症也能造成這樣的無瞳孔狀態，該病患者的視力通常會有所損害，並且極其畏光。對"無虹膜畸形"字面上的解釋就是"沒有虹膜"，此病極有可能伴發青光眼(glaucoma)和白內障(cataracts)。患者也許是"法定盲"，或許開車都不成問題，甚至可能擁有正常視力。

A gene mutation causes this condition. It occurs around the end of the first trimester of pregnancy, as the eye develops. Aniridia can be inherited; a parent with this condition has a 50-percent chance of passing it on to his or her child. Parents who each have a mutated copy of the PAX-6 gene may be at risk for having a child with Gillespie syndrome (autosomal recessive aniridia) and related cognitive disabilities.

這種病症是由基因突變引起的，這種突變發生於懷孕的第三個月末，眼睛差不多成型的時候。這是一種遺傳性疾病，患有此病的父母有50％的可能性將其遺傳給子女。父母中任意一方的PAX-6基因副本發生突變都有可能以常染色體隱性遺傳的方式使子女患上無虹膜畸形病，甚至還會造成子女的認知障礙。

ward-Bending Knees

8.膝反屈畸形

People with genu recurvatum have knees that bend backward surprisingly far, sometimes creating an animal-like appearance. The most severe cases involve a congenital dislocation of the knees. Other cases involve differences in leg length or diseases such as cerebral palsy and multiple sclerosis. Another cause is physical trauma to the knee. It could happen while playing sports or in a car accident, for instance.

膝反屈患者的膝蓋向後伸展過度，這使患者看起來像是某種動物。膝反屈畸形的病發原理多樣，最爲嚴重的要數先天性膝關節脫位，另外，兩腿長短不一，大腦性麻痹和多發性硬化症也會造成膝反屈畸形。甚至在運動或車禍中造成的膝關節損傷都有可能發展成爲膝反屈畸形。

Surgery and physical therapy can help treat the condition. Leg braces may also be used. Depending on how well treatment works, this condition may become a permanent disability for some individuals. To date, the most well-known case of genu recurvatum is that of Ella Harper, born in Tennessee circa 1870. Ella preferred to walk on all fours. She was dubbed "Camel Girl" and found great success in the role. She even starred in W.H. Harris's Nickel Plate Circus in 1886 and used the profits to better her life.

我們可以通過手術與理療治療這種病症，也可以採用下肢支具矯正腿型。但其療效卻不盡如人意，一些患者可能還是擺脫不了終身殘疾的命運。1870年左右出生于田納西州的艾拉·哈珀(Ella Harper)是迄今爲止最爲人所知的膝反屈患者。她行走時四肢着地，被稱爲"駱駝女孩"。她甚至在1886年受邀來到哈里斯(W.H. Harris)的Nickel Plate馬戲團演出，並得到一筆樂觀收入，自此過上幸福生活。

e Belly

7.梅乾腹綜合徵

Known more formally as Eagle-Barrett syndrome, prune belly syndrome causes extreme weakness in the abdomen. This leads to severe wrinkling and a prune-like appearance. The bladder of an Eagle-Barrett patient becomes permanently expanded and difficult to relieve, leading to further medical challenges. The genitalia, internal organs, and skeleton may also be negatively affected.

梅乾腹綜合徵是一種先天性腹肌缺損病症。由於腹壁肌肉缺損，致使腹壁鬆弛，皮膚皺褶，形似"梅脯"。患者膀胱擴張，尿路受阻，進一步加大了治療難度。此外，此病可能還會伴發肌肉骨骼畸形，心血管畸形，和生殖器畸形。

The cause of this condition is currently undetermined. It's possible that prune belly syndrome is hereditary, as multiple cases have been noted within families. Parents usually have fair warning. When a fetus is affected, the prune-like appearance of the belly is often visible through prenatal ultrasound, allowing for early diagnosis. Undescended testicles are another symptom. Nearly all Eagle-Barrett syndrome cases involve males—95 percent, to be exact. Children with this condition are often stillborn, and those who make it past delivery may die soon from related complications, but some do survive.

目前尚未找到病因，但有人認爲這可能是一種遺傳性疾病，因爲同一個家庭中通常會有好幾起這樣的病例。所以患有此病的父母通常會被要求做產前超聲波檢查，根據胎兒的腹部形態來判斷其是否受到遺傳，以便進行早期診治。先天隱睾則另當別論。95％的梅乾腹綜合症患者爲男性，患有此病的新生兒多爲死胎，即使嬰兒僥倖存活，不久也會死於併發症之下，但也有一些例外存在。

ter Claws

6.螯狀趾

People born with ectrodactyly tend to have deformities of both their hands and their feet. Varying degrees of surgery are used to correct this condition.

螯狀趾是指手足發育畸形，可以通過手術矯正治療。

Known commonly as split hand/foot malformation (SHFM), lobster claw syndrome involves missing fingers or toes along with gaping clefts in the sufferer's hands or feet. Fingers or toes are fused with other digits or webbed. If only one limb is deformed, it likely occurred due to a non-hereditary genetic mutation. If the hands and feet are all deformed, the condition was inherited. Parents who carry the gene have a 50-percent chance of passing it down to their offspring. Some choose to have children despite the high risk. Lobster claw syndrome is not related to more complicated medical conditions or mental barriers. The only challenge is learning to function with hands and feet shaped differently than most.

螯狀趾綜合症(又稱手足裂畸形)患者通常表現爲手指或腳趾缺失、手足分裂、或是指掌相融。一肢畸形很有可能是由非遺傳性基因突變造成的，但如果手足均發育畸形，則很有可能是由遺傳所致。攜帶有這種基因的父母有50％的可能性將其遺傳給下一代。儘管遺傳概率如此之大，一些患者還是會選擇孕育孩子。螯狀趾的治療過程並不複雜，患者也不會有什麼心理障礙，唯一的挑戰就是要學會靈活操縱長短不一的手指和腳趾。

翻譯:李念 來源:前十網