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Below are the 20 most recent journal entries recorded in A world of medical curiosities' LiveJournal:

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    Tuesday, February 10th, 2009
    5:15 pm
    [q1]
    Harlequin type ichthyosis
    First post, hope it's ok!

    I went through all the entries and didn't see this, so I figured I'd share.


    Harlequin type ichthyosis


    a skin disease, is the most severe form of congenital ichthyosis, characterized by a thickening of the keratin layer in fetal human skin. In sufferers of the disease, the skin contains massive, diamond-shaped scales, and tends to have a reddish color. In addition, the eyes, ears, mouth, and other appendages may be abnormally contracted. The scaly keratin greatly limits the child's movement. Because the skin is cracked where normal skin would fold, it is easily pregnable by bacteria and other contaminants, resulting in serious risk of fatal infection.

    Sufferers are known as harlequin fetuses, harlequin babies, or harlequins.

    The harlequin-type designation comes from both the baby's apparent facial expression and the diamond-shape of the scales (resembling the costume of Arlecchino), which are caused by severe hyperkeratosis. The disease can be diagnosed in the uterus by way of fetal skin biopsy or by morphologic analysis of amniotic fluid cells obtained by amniocentesis. In addition, doctors can now usually recognize common features of the disease through ultrasound, and follow up with 3D ultrasound to diagnose the condition.

    Warning, this pics might be graphic to some people. Video included.

    PicturesCollapse )




    Tuesday, January 27th, 2009
    10:42 am
    [nursenoir]
    "Baby Miracle"

    I just ran across a mention of this Samoan child . She has multiple devastating conditions: without the many financial and medical interventions obtained by her parents, she could not possibly have survived. This link contains some information about her diagnoses and treatment: http://www.myspace.com/babymiraclefund
    Thursday, August 28th, 2008
    2:38 pm
    [jinniya]
    Bangladeshi boy with two heads dies
    Yahoo! News

    Image and video hosting by TinyPic

    A baby boy born with two heads in southwestern Bangladesh died after his parents decided to take him home because they could not afford adequate medical care, a doctor said Thursday. The boy, named Kiron, was born Monday by Cesarean section and died at home late Wednesday after developing a fever and breathing difficulties, paediatrician KS Alam told AFP.
    Tuesday, July 22nd, 2008
    12:40 am
    [curiouscat1976]
    The Worst Case of Treacher Collins Ever???
    There is a story that has been shown on both The Learning Channel, as well as The Discovery Health Channel, and has garnered a lot of attention through other forms of media. It is all at once a confounding and shocking story that, at first, made me think again about what it is to be human; all the commonalities we share, and then I was moved and in awe of this little girl. The odds were stacked up against this girl in so many ways, and, she beat those odds. She has beaten those odds by surviving despite an extreme facial deformity, and, she's not ready to stop yet. Her name is Juliana Wetmore. The family has their own website up, actually, with frequent updates. You can look at the older photographs and make comparisons between those and the newer ones and be amazed at how far this incredible little girl has come. Definitely worth a look.

    www.julianawetmore.net
    Monday, July 21st, 2008
    9:52 pm
    [shivering_jemmy]
    Today I was talking to a coworker and we fell upon the subject of genetics, abnormalities and all that good stuff which we all here so dearly love. She mentioned that her great grandfather was a circus sideshow performer in the 1930s. I asked if she had ever seen Freaks. She became very excited and said that he was in it! He was the Living Torso (Prince Randian) and that her grandmother used to tell her stories about him and when they lived in New Jersey. This pretty much just made my year.
    Wednesday, June 11th, 2008
    2:42 pm
    [arquel]
    Baby born in China with extra penis on back
    http://www.thesun.co.uk/sol/homepage/news/article1273232.ece

    They're attributing the extra penis to fetus-in-fetu, which suggests the rest of his undeveloped 'twin' is enclosed inside of him (although this is not confirmed). There's not a lot of information beyond that, but it seems odd that just the penis would be exposed from a parasitic twin.
    Wednesday, June 4th, 2008
    4:05 am
    [jinniya]
    Saturday, April 26th, 2008
    6:46 pm
    [anotherjen]
    Juliana Wetmore!
    Tonight on Discovery Health at 8:00 PM Eastern Time, there will be a documentary about Juliana Wetmore, "Building Juliana's Face." She has a very severe case of Treacher-Collins Syndrome.

    Current Mood: curious
    Thursday, April 3rd, 2008
    3:40 am
    [redacted]
    "A Child Frozen in Time"
    Meet Brooke Greenberg. She lives outside of Baltimore, Maryland with her parents and three sisters, and looks very much like any 6-month-old baby. The difference is, she's 12 years old at the time of these videos:
    http://www.msnbc.msn.com/id/9778227/
    http://www.videovat.com/videos/1292/brooke-greenberg-ageless-baby.aspx

    My small amount of online research hasn't found anything on her since then; it's been almost exactly 2 years since the second one was posted. This is one of the most interesting things I've ever seen and I would love to know more...
    Tuesday, January 8th, 2008
    2:02 am
    [jinniya]
    Man undergoes surgery for facial tumors
    Image Hosted by ImageShack.us

    Huang Chuncai poses before his second operation to remove his tumours, which currently weigh around 10kg (22lbs), at a hospital in Guangzhou, southern China's Guangdong province, January 3, 2008. Huang, a 32-year-old native from a remote village in China's southern province of Hunan, says he is relieved after a part of his facial tumours, which originally weighed about 23kg (50.7 lbs), was removed last year. His second operation will remove another part of the tumours, which weighs 4.5kg (9.9lbs). Huang suffers from Neurofibromatosis, which is a genetic disorder of the nervous system that primarily affects the development and growth of nerve tissues

    Slideshow
    Man With 33-Pound Tumor Undergoes Second Operation
    Monday, November 26th, 2007
    8:44 pm
    [arquel]
    "Tree Man"
    While this is not a genetic condition (an uncomfortable thought), it's still fascinating.

    http://www.telegraph.co.uk/news/main.jhtml?xml=/news/2007/11/12/wtree112.xml

    Dede, an Indonesian fisherman, began to sprout horny, 'root-like' growths from his skin, caused by HPV - human papilloma virus.

    Current Mood: Got a cold
    Wednesday, November 21st, 2007
    12:20 am
    [arquel]
    Vrolik Museum
    http://www.flickr.com/photos/periphery/sets/1650296/

    My sister is in Amsterdam right now, and planning on visiting the museum and taking as many pictures as she can fit on her camera. I'll put them up when she sends them to me, but until then, enjoy this set someone else took on Flickr. I'm so jealous! I'd love to go there someday.

    That cyclopia specimen is incredible.
    Tuesday, November 6th, 2007
    11:34 am
    [arquel]
    Toddler with 8 limbs


    A toddler born with eight limbs and believed by some to be thereincarnation of the multi-limbed Hindu goddess Vishnu, is set toundergo a 40-hour operation to remove half of her limbs.

    Lakshmi Tatma was born joined to a 'parasitic twin' and will gounder the knife at the hands of 30 surgeons to remove two of heruseless arms and legs.


    http://www.dailymail.co.uk/pages/live/articles/news/news.html?in_article_id=491757&in_page_id=1770

    What a beautiful little girl, I hope all goes well with the surgery. The xray is particularly interesting, it shows the exact nature of her conjoinment, which appears to be ischiopagus, except her twin didn't fully develop. The two lowest limbs would therefore be arms, with each pair on either side being legs.
    Wednesday, September 5th, 2007
    12:14 am
    [shivering_jemmy]
    Today is my birthday and my boyfriend is super-awesome because he got me Smith's Recognizable Patterns of Human Malformation! I'm so excited, I could pop.
    Wednesday, August 15th, 2007
    3:19 pm
    [arquel]
    Tiny drama.
    Okay, I am making this post on the front page in case anyone else comes across this and decides to complain, because they will probably not bother to read the community info or any of the posts and just judge all of us as 'sick' and 'depraved' because of our interest. I do not want to make this page friends-only, because I believe in the free exchange of information.

    There was an anonymous comment on the Cornelia de Lang syndrome post, complaining on one hand that I COULD have shown pictures of the many, many beautiful and happy children with loving families affected with CdLS instead of my cold, harsh, medical photos, but then also complaining that affected children should not be a part of our, and I quote, "skewed freak show".

    I agree with the latter sentiment. I specifically use photos from medical sites, case reports, news outlets, et cetera - and I NEVER harvest photos of affected children posted by their families on support or memorial sites for any condition. NEVER. I do this out of respect for those children and their families - I do not want them to feel like we are turning their beautiful children and their private lives into our peep show.

    I know how I feel about this site, and from the replies on the posts by angelcerv21 I can tell a lot of people feel the same way: This is NOT entertainment. It is NOT a place to get jollies out of gawking at children afflicted with some sort of handicap. It is the pursuit of knowledge, and that is all. These children are human beings, and because they are, I NEVER use photos that are not feely avaliable in medical books, news articles, or case histories. Unfortunately, this means that many beautiful children will not be featured here, and instead only the harsh and cold medical photos will be used as illustration UNLESS someone comes forward and SPECIFICALLY gives me permission to use pictures of their family.

    Sorry, I've been on my soapbox for longer than I realized. I'll step down now.

    Current Mood: working
    Sunday, August 5th, 2007
    10:31 pm
    [arquel]
    It's procrastination time!
    You know what THAT means!

    Obligatory warning: Contains photos that may be disturbing to younger or sensitive viewers. Viewer discretion is advised.

    Today's condition: de Lange syndromeCollapse )

    Cornelia de Lange syndrome is a rare condition caused by a random mutation. It was first described in 1933 by Cornelia de Lange, a Dutch pediatrician, who had two young children come into her care with similar medical problems and facial structure. Although she is often credited with being the first to describe the syndrome, a Dr. W. Brachmann had previously described a case in 1919, however, he concentrated on describing the changes to the upper limbs, where as de Lange had chosen to concentrate on facial structure and other anomalies, making it possible she simply did not make a connection between this case and hers.

    Cornelia de Lange syndrome is characterized by many different anomalies, with the most noticeable one in the most serious cases being the oligodactyly (arms with a single digit). Not all cases exhibit these malformations of the upper limbs. In addition, they have hirsutism (excess hair on the face and body), and many distinctive facial characteristics, including an anteverted (upturned) nostrils with a long philtrum, a down-turned mouth with thin lips, confluent (connected) eyebrows, low hairlines, and a small lower jaw with an underbite (micrognathia).

    In addition to these anomalies, infants affected with Cornelia de Lange syndrome tend to be mentally retarded, ranging from moderate to profound. They may have microcephaly and half will have eye and vision problems, additionally, some will have heart defects that may be life-threatening.

    Those born alive with no life-threatening defects may go on to live a relatively normal life, although children affected will tend to develop more slowly than unaffected children, and may take longer to learn to speak. They also may exhibit symptoms similar to autism, such as repetetive behavior, difficulty expressiong emotion, and poor ability to relate to people.
    Tuesday, July 31st, 2007
    7:55 pm
    [arquel]
    Alrighty then...
    Seeing as this place actually still has a decent amount of people in it, I'd like to be more active in the community of fellow weirdos I helped create. Thus, I decided that every once in a while, when I'm procrastinating on something (Art History at present), I'll make a random post of an interesting condition.

    Also, I've been rebuilding my collection of genetics images after I lost them all a while back, and I'm always on the lookout for something new - if you find a place that has a collection of pictures, especially those that don't actually name the conditions (like Harmless - since they're hard to search for and I probably won't find them), send a link my way! I'm constantly on the lookout for pictures I don't already have in my folders.

    Obligatory warning that may not be necessary given the kind of community this is: contains pictures of infants affected with a serious deformity, most of which are certainly dead. While these are not gorey pictures, I understand that some people may find them disturbing, and so they are all behind the cut.

    Condition of the day: OtocephalyCollapse )

    Otocephaly - also known as Agnathia-Synotia-Microstomia (meaning "missing jaw - fused ears - tiny mouth"), is a cephalic deformity, in which the most noticeable feature is the abnormal position of the ears, which are pulled under the face. The jaw is usually either tiny, or completely absent, with the mouth forming a tiny opening. This 'classic' type of otocephaly is shown by the first three pictures in the series above. Due to malformations of the trachea and mouth, this condition is generally considered fatal.

    Occasionally, this condition occurs with holoprosencephaly as well, in which case it is referred to as Agnathia-Holoprosencephaly, and is displayed in the last three pictures. In holoprosencephaly, the midline of the face is pulled inwards, making the two halves of the face closer together. This is the condition that results in cyclopia in its most severe forms, and most babies affected have brains that are not divided into hemispheres, making one large lobe. This brain abnormality is almost always fatal, or at the very least extremely disabling, even without the otocephaly to contend with. Babies as severely affected as the one in the last two pictures are almost always spontaneously aborted or stillborn.

    Although I can cite only once case, otocephaly can apparently also occur in conjunction with anencephaly (see video about monkey-like baby born in Turkey). Although I know little about this particular case, from the images in the video the baby is clearly affected with both anencephaly and otocephaly - the ears are in the abnormal position below the face, the mouth and jaw are tiny. Additionally, the head is conspicuously small, with protruding eyes and flattened crown, which all point towards anencephaly - a condition in which the brain fails to develop or develops very little. Anencephaly is always incompatible with life, although some babies may be born alive with the condition. Those that are born alive are usually sustained by brain stem function, and die soon after birth.
    Saturday, July 28th, 2007
    12:17 am
    [angelcerv25]
    Thanks

    Thanks for all the cool comments to my previous post. 

    I didn't mean to imply that this was a community used to mocking the genetic and physical differences of others. Beng mocked, however, was fresh in my mind because on the community random thought someone had said they would never date a hermaphrodite, but it would make for fun party tricks. So I posted my own response to that saying "I'm a hermaphrodite, and I wouldn't date you either. By the way, I'm a human being, not a circus freak created for your amusement." It's a pretty horrible community, actually. All the comments left behind on that post were various forms of poking fun and immature disappoints that I wouldn't come to their party to do tricks. What tricks?

    Then I came over here and maybe the insults were still fresh in my mind. Sorry, I wasn't trying to imply that anyone here is like the assholes over on random thought. They remind me of the kind of people I went to high school with.

    I'm working on more pictures. Someone asked me about that. There is one other on my profile. I haven't uploaded any more yet, I just came over here from blogspot. Blogspot's really boring.



    Current Mood: calm
    Friday, July 27th, 2007
    3:36 am
    [angelcerv25]
    I guess I'm a freak
    I'm a true hermaphrodite. I have a penis and a vagina and both are functional. My chromosomes say XY/XO. My face looks...well, unusual. We'll just leave it at "androgynous" because it's true. It's hard to tell if I'm a girl or boy or both.

    In addition, my toes are webbed. My feet look mostly normal - there are five distinct toes on each and a nail for each one but they are are joined together up to the lower edge of the nail. Don't ask me if I'm a good swimmer, I hate water.

    All my life I've been considered some kind of freak.  I'm 21 now and in college, way too shy to make friends. I have some online friends, that's it. I know a couple people in San Franciso because a radio station asked me to be a guest one time to talk about being a hermaphodite.

    Will I always be a freak? Created for the amusement of others? Not really human, just something to gawk at?

    Current Mood: apathetic
    Saturday, May 5th, 2007
    9:56 pm
    [anotherjen]
    I found an update on the Hensel twins!
    They're conjoined twins who essentially appear to be one body with two heads. I've found them fascinating ever since I saw them in Life Magazine when they were probably 6 or 7. Now they're in high school!

    Here's the video.

    Current Mood: pleased
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