FAQ - thanatophoric dysplasia
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has anyone ever been misdiagnosed with Thanatophoric dysplasia?


a friend's baby is diagnosed with this rare disease at 5 months, and i really want to be positive and hopeful and they do make mistakes sometimes, right? has anyone ever heard of anyone being misdiagnosed with this?
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Never can get this wrong. Signs in thighs and spine bones are far too obvious. Never heard of doctor getting this wrong.

But... doctor could jump to conclusions too soon.

Uh... can you see a narrow chest, short ribs, and an enlarged head with a large forehead and prominent, wide-spaced eyes? If so, then the baby has Thanatophoric dysplasia.  (+ info)

hi! three years ago my son passed away bcoz of thanatophoric dysplasia. Is TD recurrent?


hey!:)
sorry to hear that.
Thanatophoric Dysplasia is recurrent only if the gene carriers( parents) both have the "Bad" gene. this disease is geno-type,( in the genes) not pheno-type(physical features)
if these two genes are connected them the possibility is high.
there is a way the figure the chance's.
due to the facxt that the gene which causes the disease is on the dominant side ( the gene which has control over others.) so this means that there must be two carriers, so you will have a 1 in 4 chance that your next child will have the disease.
so really theres no definate possibillity that your next child will have the disease.
sorry if i bored you :(  (+ info)

What happens when the cervical dysplasia is gone but the high risk hpv is still present?


I was diagnosed with low-grade cervical dysplasia a while ago and following my most recent test I was told that I no longer had the dysplasia but the high-risk hpv that caused it was still there... Does this mean that cervical dysplasia could come back? And is it possible that the hpv could ever go away?
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Yes, if you still have HPV present, then you could have a recurrence of cervical dysplasia. This mean you need to have regular Pap smears to monitor your progress.

Most women clear their infection eventually. But some women's infections persist indefinitely. I don't know which category you're in, but you will have to take a wait-and-see approach. In the mean time, you should take good care of yourself. Don't smoke (smoking is linked to greater risk of dysplasias), eat healthy and exercise so your otherall health and immune system are working well.  (+ info)

What is the difference between hyperplasia and dysplasia- and can anyone give me a reference for it?


I can't seem to find a book or journal article that specifically defines the difference between dysplasia and hyperplasia- any help would be much appreciated!
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Hyperplasia is a general term referring to the proliferation of cells within an organ or tissue beyond that which is ordinarily seen

Dysplasia is a term used in pathology to refer to an abnormality of development.

Hyperplasia = excessive normal cells which are benign.
Dysplasia = excessive abnormal cells which can become malignant.  (+ info)

How long does it take for moderate cervical dysplasia to turn into cancer?


I have moderate cervical dysplasia and need a LEEP procedure done. I am a single mother of 4 and can't come up with the $500 that our local clinic is charging for the procedure. How long can I safely wait before this gets worse and turns into cancer?
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You really should get treatment, but In also honesty, it's pretty safe to wait.

Moderate dysplasia only has about a 5% chance of becoming cancer ever, and usually it takes about 10 years for dysplasia to become cancer. Moderate dysplasia can progress to severe dyplasia quite quickly, but left untreated for a year, severe dysplasia only has about a 3% change of becoming cancer.

Doctors often wait to treat moderate dyplasia in young women (like under 20) because many fight it off on their own. Also in pregnant women, most doctors would not treat moderate dysplasia until after the baby is born.

They did this clinical trial at Johns Hopkins where they followed women with severe dysplasia for 15 weeks without treatment. They figured 15 weeks was a safe period to just observe and do nothing.

So, save up because eventually you are probably going to have to treat this. But I'd say you can wait several months without worries.  (+ info)

How often after being cleared of cervical dysplasia should I be getting pap smears?


I have had cervical dysplasia twice. Once when I was 22 and again when I was 26. After this last time I had cryosurgery and was cleared of the dysplasia. I am curious about how often I need to be going back for pap smears. I heard that I should be going back more than just once a year but my doctor did not mention when I need to return.
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It depends on how severe your dysplasia was. Different classes advance at different levels. Most people with cervical dysplasia get pap smears once or twice a year, but severe dysplasia may have to be watched more closely, even quarterly or monthly. Once you have 2-3 clear pap smears, you're fine to go once a year. Call your doctor to find out when you should go back.  (+ info)

What questions should I ask my doctor about severe dysplasia?


I have had a biopsy done which had shown that I have severe dysplasia and will be getting a LEEP done on Tuesday. I don't have children yet but want to. I know more about dysplasia and other things regarding it because I have been researching it but I want to know what questions I should ask my doctor.
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I had a leep done last september and it went surprisingly well. Ask about:

How long you need to wait before you can have sex, etc. The longer the better, my doctor told me 2 weeks and I have since been told that that was not long enough.

Ask what you can expect as far as the healing process, I was very surprised when I started passing clots, which is normal, but my doc didn't tell me about it so I was pretty freaked out when it started happening.

Ask what to expect as far as bleeding after sex, I am still experiencing bleeding occasionally and it can be very frustrating.

Ask when you will be hearing about the test results of the removed tissue - it usually only takes a couple days (the tests will confirm that the abnormal cells were not cancerous and will also indicate whether all the abnormal cells were removed).

You may also want to ask about complications after the surgery, like incomplete removal of cells, narrowing of the cervical opening, and excessive bleeding and scar tissue.

Ask any other questions that you can think of about any other things that you are concerned about. Try making a list so that you don't miss anything; you'll probably be nervous and you don't want to go home wondering about the things you forgot to ask. The procedure took my doctor less than ten minutes, and my cramping during healing was minimal. Ask your doctor what he recommends to take for pain. Make sure you have tons of pads (the always infinity ones are the best, they're really thin and light and super absorbent. You can expect to bleed for two weeks or more.

I hope this helps, good luck!  (+ info)

What would dysplasia have to do with teeth/orthodontists?


I was reading my orthodontic file and I think it said something about dysplasia... Most of the words were really confusing and I didn't understand them, the only one I remembered was dysplasia (I think). What is dysplasia, and what would it have to do with my teeth?
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Dysplasia (from Greek, roughly: "bad form") is a term used in pathology to refer to an abnormality in maturation of cells within a tissue. This generally consists of an expansion of immature cells, with a corresponding decrease in the number and location of mature cells. Dysplasia is often indicative of an early neoplastic process. The term dysplasia is typically used when the cellular abnormality is restricted to the originating tissue, as in the case of an early, in-situ neoplasm. For example, epithelial dysplasia of the cervix (cervical intraepithelial neoplasia - a disorder commonly detected by an abnormal pap smear) consists of an increased population of immature (basal-like) cells which are restricted to the mucosal surface, and have not invaded through the basement membrane to the deeper soft tissues. Myelodysplastic syndromes, or dysplasia of blood-forming cells, show increased numbers of immature cells in the bone marrow, and a decrease in mature, functional cells in the blood.  (+ info)

What is servere dysplasia of the cervix?


I had a pap smear come back with the results of having abnormal cells to the cervix. Then about 3wks ago i had a cervical biopsy done and was told that i had servere dysplasia. That my cervical cells were so abonormal. What does this mean? Do i have cancer and they did not want to tell me over the phone so i would not worry. Which i am, and so is my boyfriend. We cried together last night fear of me having cancer and the worse happen. The nurse at the clinic said that they are going to make an appointment with a specialist as soon as i get my financial papers in the mail. Which i received today and have to wait until MOnday being that the offices are closed on the weekend. Ahh. I dont know what to think. I am so stressed out and depressed.
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Severe dysplasia is NOT cancer but a form of precancer.
Cells on the cervix will undergo changes sometimes when
the patient has the Human Papilloma Virus (HPV). Over
70 to 80 percent of the population is infected with this virus
and do not know. If severe dyplasia (also known as a High
grade squamous intrapithelial lesion) is left untreated, it can turn into cancer. Cervical cancer can be a slow growing cancer and is quite curable when detected early enough. But the important is to follow your doctors instructions. Good luck to you.  (+ info)

What are your experiences regarding the treatment of hip dysplasia in human &/or periacetabular osteotomys?


At 14 I was diagnosed with hip dysplasia and at 15 underwent a periacetabular osteotomy. I am curious if there are any others out there who underwent this that I can compare my results with. I am currently experiencing a lot of difficulty with range of motion and wanted to see if this is a common side effect for others.
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umm...  (+ info)

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