User:Journee Williams/sandbox

Prep for Peer Review:

1)Lead

-I think the lead is well-stated and gives a brief overview of the entire article without providing too much information on one section. And it provides a description for the syndrome as well.

2)Organization & 3)Balance

-Some sections are lacking compared to others but I think that's because more research by the community needs to be done. The first description of this condition was in the 60's so it's fairly new. There are some sections that could be condensed into one with subsections.

4)Neutrality

-Since this article is describing a birth defect, I don't see how they could persuade people to believe that one idea is better than another. That being said, there are some grammar choices that I plan on changing they use "malformations" when the conditions they describe are defined as "intersex".

5) Sources

-The sources (that are there) are presented accurately however the author has missed several citations and I plan to add them after doing research

6)Overall

-Overall, I think this article is definitely lacking in certain parts. It's rated at a C level. The missing citations are the biggest concern. But, it's an informative piece that is just somewhat incomplete.

Contributions to the page:

1) add any missing citations: McGregor et al. (2003), Slavotinek et al. (2006) [citation was added on the talk page], Cavalcanti et al. (2007), Shafeghati et al. (2008), Koenig and Spranger (1986), Thomas et al. (1986), Boyd et al. (1988), Serville et al. (1988), Schauer et al. (1990)

2) possibility of changing the organization of the page, some sections look too dense; creation of subsections. eh

3) addition of "intersex", removal of "malformations"1)-McGregor, L., Makela, V., Darling, S. et al. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet 34, 203–208 (2003). https://doi.org/10.1038/ng1142

-Cavalcanti DP, Matejas V, Luquetti D, Mello MF, Zenker M. 2007. Fraser and Ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1. Am J Med Genet Part A.https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.31426

- Shafeghati Y, Kniepert A, Vakili G, Zenker M. 2008. Fraser syndrome due to homozygosity for a splice site mutation of FREM2. Am J Med Genet Part A 146A:529–531.

-''Koenig, R., Spranger, J. Cryptophthalmos-syndactyly syndrome without cryptophthalmos. Clin. Genet. 29: 413-416, 1986. (see bookmarked link)''

-Thomas, I., Frias, J., Felix, V., Leon, L., Hernandez, R., Jones, M., & Reynolds, J. (2005, June 04). Isolated and syndromic cryptophthalmos. Retrieved December 02, 2020, from https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.1320250111

-Boyd et al (1988) (see bookmarked link)

-Serville et al (1988) unable to find....

-Schauer et al (1990) (see bookmarked link)

-Takamiya, K., Kostourou, V., Adams, S. et al. A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. Nat Genet 36, 172–177 (2004). https://doi.org/10.1038/ng1292 (GRIP1 citation)

-Slavotinek, A., & Tifft, C. (2002, September 01). Fraser syndrome and cryptophthalmos: Review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. Retrieved November 04, 2020, from https://jmg.bmj.com/content/39/9/623.full (citation for developmental delay)

3)https://isna.org/faq/conditions/

This website describes what some genital development that involves intersex anatomy. They state that micropenises and clitoromegaly are intersex conditions and not "malformations" as described in the Signs and Symptoms section of this article.

Edit:

Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome) is a rare autosomal recessive congenital disorder, identified by several developmental anomalies. Fraser syndrome is named for the geneticist George R. Fraser, who first described the syndrome in 1962.

Signs and symptoms[edit]
It is characterized by developmental defects including cryptophthalmos (where the eyelids fail to separate in each eye), and intersex development in the genitals (such as micropenis and clitoromegaly . Congenital malformations of the nose, ears, larynx and renal system, as well as developmental delays, manifest occasionally. Syndactyly (fused fingers or toes) has also been noted.

Edit for genetics:

Genetics[edit]
Fraser syndrome has an autosomal recessive pattern of inheritance.

The genetic background of this disease has been linked to a gene called FRAS1, which seems to be involved in skin epithelial morphogenesis during early development. It has also been associated with FREM2 and with GRIP1.

References[edit]

 * 1) ^ Jules François. Syndrome malformatif avec cryptophtalmie. (Note préliminaire.) Ophthalmologica, Basel, 1965, 150: 215.
 * 2) ^
 * 3) ^
 * 4) ^ Jump up to:a b
 * 5) ^
 * 6) ^
 * 7) ^
 * 8) McGregor, L., Makela, V., Darling, S. et al. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet 34, 203–208 (2003). https://doi.org/10.1038/ng1142
 * 9) Cavalcanti DP, Matejas V, Luquetti D, Mello MF, Zenker M. 2007. Fraser and Ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1. Am J Med Genet Part A.https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.31426
 * 10) Shafeghati Y, Kniepert A, Vakili G, Zenker M. 2008. Fraser syndrome due to homozygosity for a splice site mutation of FREM2. Am J Med Genet Part A 146A:529–531.
 * 11) Thomas, I., Frias, J., Felix, V., Leon, L., Hernandez, R., Jones, M., & Reynolds, J. (2005, June 04). Isolated and syndromic cryptophthalmos. Retrieved December 02, 2020, from https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.1320250111
 * 12) Takamiya, K., Kostourou, V., Adams, S. et al. A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. Nat Genet 36, 172–177 (2004). https://doi.org/10.1038/ng1292
 * 13) Slavotinek, A., & Tifft, C. (2002, September 01). Fraser syndrome and cryptophthalmos: Review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. Retrieved November 04, 2020, from https://jmg.bmj.com/content/39/9/623.full
 * 14) https://isna.org/faq/conditions/