Talk:Lujan–Fryns syndrome

expansion
Needs section on treatment and epidemiology as well as a bit history regarding the condition. Doc James (talk · contribs · email) 02:52, 17 August 2009 (UTC)


 * A population-based epidemiology for Lujan-Fryns has not been determined, currently. History and treatment secs would be great, though. --Rcej (talk) 07:58, 17 August 2009 (UTC)

GA
I am not convinced this is yet a GA

Doc James (talk · contribs · email) 02:42, 2 September 2009 (UTC)
 * 1) does not fit WP:LEAD
 * 2) no section has been added on epidemiology. Epidemiology is not just prevalence. It is known to occur more commonly in males than female for example.
 * 3) Do we have permission to use the image in the lead? It is from http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1538574
 * The journal is open access and licensed CC-BY-2.0, as noted just below the authors' affiliations and also noted on the commons image page. Thatcher 03:55, 2 September 2009 (UTC)
 * Your added ref #47 was a relatively poor choice since the statement "LFS is rare" was a throwaway line in a discussion of Marfan's that cited two other references, Scwartz et al (2007) which is already cited, and Purandare and Markar (2005, ). (It's a good review on the psychiatric manifestations but does not address the other physical features, and also discusses XLMR in a way that is made somewhat obsolete by the MED12 finding.)  The citation was also incorrect, ScienceDirect is not the source, the citation would be Lemberg and Thompson, Marfan syndrome and schizophrenia: a case report and literature review, General Hospital Psychiatry, 2009 (in press), doi:10.1016/j.genhosppsych.2009.04.010.
 * For Epidemiology it's hard to say much about a disease with only 20 or so reported cases without crossing into speculation, original research, or synthesis. You could copy-paste the entire Epidemiology section from Van Buggenhout and Fryns since it is freely licensed, but it only has 3 sentences (unknown prevalence, affects males, and there might be more cases in institutionalized populations).
 * What is missing from the lead? Thatcher 04:23, 2 September 2009 (UTC)

X-linked dominant / X-linked recessive?
I'm pretty sure the reference listed above says that the disease is X-linked recessive, not X-linked dominant— and I saw a pedigree in [another article] that seems to back it up. Can someone who is better at article editing/medical stuff than I check and confirm this? 63.226.248.97 (talk) 00:17, 9 December 2010 (UTC)

Eyes
Can we have a picture with visible eyes please?--88.104.134.144 (talk) 00:22, 21 June 2015 (UTC)