Talk:Primordial dwarfism

Diagnosis

Can someone with a medical background please write something other than what is viewable here? — Preceding unsigned comment added by 97.121.45.97 (talk) 23:03, 8 October 2016 (UTC)

I think this last sentence in the first paragraph is misleading --> "Most individuals with primordial dwarfism are recognized by medical professionals while they are still in the womb." I believe that is common to recognize a problem with the size of the fetus/baby in the womb, however a diagnosis of PD normally does not happen until the child is several years of age (if I understand correctly). --Diablorex 12:56, 22 October 2007 (UTC)

Agree. My son is an MOPDII, and while it is 'possible' to identify them in the womb, it only happens in cases where previous siblings have been diagnosed (i.e. with Bridget and Bradley Jourdan, where doctors were aware there could be complications in the prgenancy.). —Preceding unsigned comment added by 63.73.199.69 (talk) 15:53, 24 January 2008 (UTC)

History

Kenadie is reported to weigh 10 lbs in an ABC article (sorry, can't find it), so the statement that she will "never weigh more than 8 lbs" should be corrected. —The preceding unsigned comment was added by 64.134.114.107 (talk) 03:32, August 21, 2007 (UTC)

I've deleted "She will never be any taller than 30 inches, or weigh any more than 9 lb." If someone wants to put it in the article that "so and so says that ...", I won't object, but it's not verifiable facts; it's someone's opinion.--Prosfilaes 15:43, 15 November 2007 (UTC)

I went onto her page and read what they said about her weight... On one page it said she will never exceed 8 pounds, and on another it says she already weighs ten. EDIT: on another page it says she weighs 12lbs. Lena wooly (talk) 16:21, 3 July 2008 (UTC)

The reality is that MOPD children grow on a curve that is remarkably similar to average children, differing primarily in the starting point (and thus also the final weight). When my son (Danny White) was born, I was told to expect a significant period of growth where he would 'catch up' to average children somewhat, but that simply never occurred. For both average and MOPD children, it is nearly always true that they pass through 1/2 of their adult height between the ages of 2 and 3. So, statements to the effect of 'Kenadie will never weigh more than 8 pounds' are somewhat odd, considering her size at age 3. It seems likely she will be taller than Bridget Jourdan, and possibly weigh more than her as well. —Preceding unsigned comment added by 63.73.199.69 (talk) 13:44, 25 September 2008 (UTC)

Life Expectancy

How long does a sufferer typically live?

They live up to 30, or more if they stay healthy. ~SMZ Apr.6,08 11:23pm

What a non-helpful comment! 'Up to 30'!?! What happens then, the MOPD fairy comes and takes them away? While it is true that 'average' life expectancy for patients with Primordial Dwarfism is low, due to many, many factors, it is at the moment unknown what the true life expectancy of these individuals is. Recent discoveries about the underlying cause of MOPD may be helpful in the future in shedding more light on this subject. The gene that was identified as the source of mutation for MOPD (the PCNT gene) is integral to DNA repair during cell division, so it seems likely that aging will be impacted (as cells divide over and over, the imperfect copying of DNA could result in cellular damage or even cell death). However, until further study can determine the extent of the genetic impact on aging, it is impossible to give an accurate life expectancy. —Preceding unsigned comment added by 63.73.199.69 (talk) 13:55, 25 September 2008 (UTC)

Yes they can suffer aneurysms because they suffer from microcephalia, a condition that results in a smaller brain and vascular tissues. —Preceding unsigned comment added by 24.128.40.117 (talk) 17:35, 21 January 2008 (UTC)

- Life expectancy in these children is affected by a great number things, with aneurysms being one of the more serious. There has also been an acknowledged increase in deaths due to viral infection. Dr. Scott at the DuPont Chuldrens hospital once hypothesized that this is due to the low volume of blood in the children, resulting in the virus being able to duplicate faster than the body can create white blood cells/antibodies to fight the virus. I believe that Dr. Scott mentioned 2 or 3 of his patients died from such viral infections. Also, there are many other medical complications, such as high rate of scoliosis, problems with digestion and respiration problems that can lead to early death. It has even been speculated that the syndrome may share some 'early aging' characteristics with Progeria and other syndromes. Finally, the numbers for the life expectancy of Primaordial Dwarves is expected to change somewhat in the near future, as the children who have recieved improved medical care move into their 30's and perhaps beyond. —Preceding unsigned comment added by 63.73.199.69 (talk) 16:15, 24 January 2008 (UTC)

This site says that the life expectancy of those with primordial dwarfism is around thirty years of age. This does not apply to Russell-Silver Syndrome which is included in the article.Blackie2 (talk) 03:35, 2 October 2008 (UTC)

Help with Potential Minor Edit

The last sentence in the last paragraph under the Types section in the article about Primordial dwarfism either has a missing word or the first “of” is not supposed to be there. It currently reads “Many affected individuals are generally referred to as having of primordial dwarfism because specific diagnosis within the category of primordial dwarfism is difficult.” If a word is missing, it appears it would be one that would be significant, for instance: Many affected individuals are generally referred to as having symptoms of primordial dwarfism because specific diagnosis within the category of primordial dwarfism is difficult. Or Many affected individuals are generally referred to as having the syndrome of primordial dwarfism because specific diagnosis within the category of primordial dwarfism is difficult. It would be helpful if the original author could take a look at it, but I haven’t figured out how to see who that is yet. Thanks. Jstiteler 21:28, 10 January 2007 (

Now that the potential coppyright violations are removed, so is the above referenced need for edits. Thanks.

Copyright violation

Certain sentences in this article match verbatim the article at http://www.primordialdwarfism.com/medmain.htm. Further an [early version of this article] is clearly matches that article. Thanks/wangi 21:26, 29 January 2007 (UTC)

I've removed what I think is all the copyvios. --J2thawiki 12:53, 4 February 2007 (UTC)

Great. Now there's 1/10 the information.

Types

Which of the SIX types listed is not supposed to be there ? Woodsstock 17:16, 8 March 2007 (UTC)

There are now NO types listed. Is this intentional? --87.81.240.46 22:05, 21 September 2007 (UTC)

I just expanded the first reference to MOPD II to read "Majewski osteodysplastic primordial dwarfism (MOPD) type II". It's also known as "Microcephalic osteodysplastic primordial dwarfism type II", but a quick search on pubMed showed more references to Majewski in recent years. In the intro section it is referenced as a single subtype (which as far as I can tell is accurate), but later in the article I found the text

In the late 1990s and early 2000, appearances on the Maury Povich show by two children, Daniel White and Hannah Kritzeck, brought more attention to the syndrome which became know as MOPD II.

There are two problems with this:

1. MOPD II is not synonymous with primordial dwarfism, as it references a particular subtype.
2. MOPD II did not get its name as a result of the Maury Povich show and the attention it created, as is implied here. It was first described by Majewski et al in a 1982 paper entitled "Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism." in the American Journal of Medicine. (PubMed ID : 7201238)

Unfortunately, I don't know whether Maury Povich really had only people with MOPD II on the show or whether he had people with multiple subtypes and the author applied MOPD II to them and the attention which followed out of confusion. Since there is no source citation, and no proper discussion of the subtypes anywhere in the article, I don't know how to properly correct this at the moment, but someone who knows more should eventually address this.

Stefanwulf (talk) 20:20, 15 December 2007 (UTC)

Contradiction

Opening paragraph says PD is usually diagnosed in the womb. Later in the article it states in most cases PD is not diagnosed until the child is sometimes as old as five. —Preceding unsigned comment added by 71.10.220.48 (talk) 19:49, 12 October 2007 (UTC)

Article didn't make sense. Changed "misdiagnosis is rare, to misdiagnosis is common, which is what is impled by the rest of the paragraph.--199.67.203.142 13:36, 26 October 2007 (UTC)

Numbers and heights

I disagree with the prevalence numbers of 200 cases worldwide quoted, for Silver Russell Syndrome alone the prevalence is estimated to be between 1 in 100,000 and 1 in 3,000 ([1]) giving worldwide figures of between 2million and 60,000. It is hard to find good figures for rare diseases such as these. Also, as two of the subtypes are characterised by larger heights (sometimes around 4 1/2 feet or 135cm I believe) should this be mentioned in either this article or the main subtypes, maybe if someone can find reliable figures they could add them. Any comments? Cjeam (talk) 23:58, 9 September 2008 (UTC)

I have Russell-Silver Syndrome and I am 4 ft 11. I had growth hormone for seven years as a child. People with this disorder are frequently taller than 135cm. User: Blackie2 Blackie2 (talk) 03:23, 2 October 2008 (UTC)

Bad grammar

The sentence "individuals are extremely small for their age, even as a fetus." is grammatically inconsistent and reads rather awkwardly. "individuals" - plural "are" - plural "their" - plural "fetus" - singular It should be:

   "individuals are extremely small for their age, even as fetuses." - all plural

or

   "an individual is extremely small for its age, even as a fetus." - all singular

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