Talk:Thanatophoric dysplasia

U.S. National Library of Medicine acknowledgement
Initial content for this article was sourced from the U.S. National Library of Medicine at http://ghr.nlm.nih.gov/condition=thanatophoricdysplasia (circa 23/03/2005). NLM is in the public domain, but NLM "request that in any subsequent use the National Library of Medicine (NLM) be given appropriate acknowledgement". This notice forms the requested acknowledgement, with thanks. --Tagishsimon (talk)


 * With thanks indeed, to you too Tagishsimon. I dreaded creating this page, but now that I have some starting source I may be able to expand it. Any other sources you found that I could work with?Professor Ninja 17:59, 23 Mar 2005 (UTC)

frequency of occurence
This article states that thanatophoric dysplasia occurs 1:60000 births, while the article for Thanatos states that it occurs once every 6400-16700 births. Which is correct?
 * I've edited the part about ratio because the article incorrectly quotes a source which is about a more general list of malformations, including thanatophoric dysplasia. Also note that the rate in Fallujah, Irak, is 5 / 6 049 but this is not representative of course ! Depleted uranium http://jima.imana.org/article/view/10463 see my website www.assopyrophor.org for more on uranium and its effects --FlorentPirot (talk) 09:32, 8 May 2017 (UTC)

Not necessarily inherited!
"Thanatophoric dysplasia is a severe inherited skeletal disorder [...]" (Paragraph 1, Line 1) - The genetic defect is not necessarily inherited. In fact, more than 80% of thanatophoric displasia is a spontaneous mutation in the FGFR3 (fibroblast growth factor receptor-3) on chromosome 4 p16.3. IF the defect is inherited, however, it is autosomal dominant. --Jsteenbuck (talk) 21:34, 9 May 2009 (UTC)

Prognosis
Someone changed the prognosis section from "Children with this condition are usually stillborn..." to "Children with this condition are sometimes stillborn..." and added "If prematurity is not too severe, a child born with thanatophoric dysplasia who receives ventilator support from birth has a good chance of survival.". I am reverting these changes as they are not supported by the quoted sources or any other literature I can find (in fact, everything I can find directly contradicts this).2.97.66.157 (talk) 23:17, 26 June 2013 (UTC)

The use of the words "male" and "female" was really creepy and I changed it. The repeated use of "male/female" is odd and makes these children/people seem like lab specimens. They're people, however strange their condition may be.

This line: "As of 2020 Christopher Álvarez, 23, is a Colombian living with TD in New York City." only has Instagram as a cited source, and has no readily apparent mention of the specific diagnosis on that page. Unless a more authoritative citation is available, I would move to strike it from the article. Thoughts? Huxdusjshxj (talk) 19:09, 1 February 2021 (UTC)
 * Found a press release from a higher learning institution which is a better source. Replaced the Instagram citation.  Huxdusjshxj (talk) 19:33, 1 February 2021 (UTC)

Links
Should a category be created (with this article linked to it) to congenital birth defects? 68.165.84.106 (talk) 20:35, 28 July 2013 (UTC)
 * Yes ! --FlorentPirot (talk) 09:29, 8 May 2017 (UTC)

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