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 * Note: Please use your sandbox to submit assignment # 3 by pasting it below. When uploading your improvements to the article talk page please share your exact proposed edit (not the full assignment 3).


 * Talk Page Template: CARL Medical Editing Initiative/Fall 2019/Talk Page Template

Noonan Syndrome

Assignment 2
Veeral Desai

Allen MJ, Sharma S. (2019, June 27). Noonan Syndrome. Retrieved from

https://www.ncbi.nlm.nih.gov/pubmed/30335302

Allen MJ, Sharma S. Noonan Syndrome. [Updated 2019 Jun 27]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2019 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK532269/


 * 1) How you searched for a source (search strategy – where you went to find it).

I utilized the PubMed database to search and identify my source. For search criteria I used “Noonan syndrome” as the key search term with a limit on articles published after 2015 and ‘Review’ and the Publication type. This yielded a total of 73 articles. After a title screen and an abstract reading of 12 chosen articles, I chose this one


 * 1) What potential sources were identified and considered (give examples of 1 or 2).

There were a number of other articles examined and considered, however I felt as though they were often too narrow in scope. An example of this is ‘Molecular Genetics of Noonan Syndrome and RASopathies.’ by Liao J & Mehta L. (2019)


 * 1) Why the source was chosen (what made it better than other choices)

This source was chosen as articles indexed on PubMed are often reputable and trustworthy. This ensures accurate information. Additionally, this article was updated recently (2019), ensuring that the information was up to date.


 * 1) List at least three reasons why the source that was selected meets Wikipedia’s reliable medical sources (MEDRS) criteria.

1) The article is not an editorial or blog 2) The articles was published in a respected database (Pubmed) 3) The article accurately reflect current knowledge (recent publication)


 * 1) How do you plan to use the source for improving the article?

This source can be used to provide updated and correct information regarding the diagnosis, prognosis, treatment, and other aspects of the article. I will also use this review specifically to help write the history section of the Wikipedia article.

History[edit]
 Original : Jacqueline Noonan was practicing as a pediatric cardiologist at the University of Iowa when she noticed that children with a rare type of heart defect, valvular pulmonary stenosis, often had a characteristic physical appearance, with short stature, webbed neck, wide spaced eyes, and low-set ears. Both boys and girls were affected. These characteristics were sometimes seen running in families, but were not associated with gross chromosomal abnormalities. She studied 833 people with Noonan syndrome at the congenital heart disease clinic, looking for other congenital abnormalities, and in 1963 presented a paper: "Associated non-cardiac malformations in children with congenital heart disease". This described 9 children who in addition to congenital heart disease had characteristic facial features, chest deformities and short stature.

Dr. John Opitz, a former student of Dr. Noonan's, first began to call the condition "Noonan syndrome" when he saw children who looked like those whom Dr. Noonan had described. Dr. Noonan produced a paper entitled "Hypertelorism with Turner Phenotype" in 1968, and in 1971 at the Symposium of Cardiovascular defects, the name 'Noonan syndrome' became officially recognized.

 Proposed Changes: 

Dr. Jacqueline Noonan was practicing as a pediatric cardiologist at the University of Iowa when she noticed that children with a rare type of heart defect, valvular pulmonary stenosis, often had a characteristic physical appearance, with short stature, webbed neck, wide spaced eyes, and low-set ears. Both boys and girls were affected. These characteristics were sometimes seen running in families but were not associated with gross chromosomal abnormalities. She studied 833 people with Noonan syndrome at the congenital heart disease clinic, looking for other congenital abnormalities, and in 1963 presented a paper: "Associated non-cardiac malformations in children with congenital heart disease". This study described 9 children who in addition to congenital heart disease had characteristic facial features, chest deformities and short stature.

Dr. John Opitz, a former student of Dr. Noonan's, first began to call the condition "Noonan syndrome" when he saw children who looked like those whom Dr. Noonan had described. Dr. Noonan produced a paper titled "Hypertelorism with Turner Phenotype" in 1968 where she studied 19 patients who displayed symptoms indicative of Noonan's Syndrome. In 1971 at the Symposium of Cardiovascular defects, the name 'Noonan syndrome' became officially recognized.

 Rationale for Proposed Changes: 

Changes Made:

- I updated some small grammar changes, to improve the overall flow of the section.

- I added the 'Dr." before Dr. Jacqueline Noonan to make the article more correct.

- I added more detail to the 2nd paragraph (Dr. Noonan's 1968 study) to better describe the history of Noonan's syndrome.

I do not anticipate any controversy with my proposed changes as it involved the inclusion of additional details describing the methodology of a primary source and corrections to the grammar/titles used in the section.

 Critique of Source: 

- The source used is a primary source published in 1968. The study itself is very old and will not be as accurate as other sources when assessing for bias, and information regarding causes, diagnosis, and prognosis. However, within the context of the 'History Section', this article was the most appropriate to use.

Differential diagnosis[edit]
 Original :

Differential diagnosis[edit]

 * Turner syndrome, a different disorder often confused with NS because of several physical features that they share
 * Fetal alcohol syndrome, another disorder sometimes confused with NS because of some common facial features and intellectual disability
 * Other RASopathies, particularly:
 * Costello syndrome
 * Legius syndrome
 * Noonan Syndrome with multiple lentigines, as known as LEOPARD syndrome, a related disorder caused by mutations in PTPN11 that are catalytically inactivating.
 * Cardiofaciocutaneous syndrome, a related disorder which also affects genes encoding elements of the Ras/MAP kinase pathway.

 Proposed Changes :

Turner Syndrome
While there are similarities between the two (renal anomalies, developmental delay), Turner syndrome is only found in females and often expresses differently. In Turner Syndrome, there is a lower incidence of developmental delays, left-sided heart defects are constant and the occurrence of renal abnormalities is much lower.

Other RASopathies:

 * Watson Syndrome - Watson Syndrome has a number of similar characteristics with Noonan’s Syndrome such as short stature, pulmonary valve stenosis, variable intellectual development, and skin pigment changes
 * Cardiofaciocutaneous (CFC) syndrome - CFC syndrome is very similar to Noonan’s Syndrome due to similar cardiac and lymphatic features. However, In CFC syndrome intellectual disability and gastrointestinal problems are often more severe and pronounced.
 * Costello syndrome - Like CFC syndrome, Costello syndrome has overlapping features with Noonan’s Syndrome. However, the conditions can be distinguished by their genetic cause.
 * Neurofibromatosis 1 (NF1)
 * Williams syndrome

 Rationale for Proposed Changes: 

Changes Made:

- I reworked the whole differential diagnoses section. I added more details to four similar syndromes. In each of them, I highlighted the similarities and the differences with appropriate citations. This helps to illustrate why they are potential differential diagnoses for Noonan's Syndrome. I also relocated the expanded explanation for Fetal Alcohol Syndrome as I could not trace the article cited and I personally think the syndrome does not have enough of a connection to justify being included in this section as a primary differential diagnosis. Overall, I feel the new information improves upon the scientific accuracy and validity of the article with expanded explanations and more trusted citations.

I do not anticipate any major controversy with my proposed changes as it includes information that is appropriately cited and matches the section in an appropriate manner. The demotion of the Fetal Alcohol Syndrome to the 'Other" heading may cause a small amount of controversy as I exercised my personal judgment in not including it. I personally felt that "another disorder sometimes confused with NS because of some common facial features and intellectual disability" was not sufficient enough of an explanation for what makes Fetal Alcohol Syndrome a primary differential diagnosis.

 Critique of Source: 

- I could not trace the exact version cited in the original Wikipedia Article. However, in examining the Guidelines for Referral and Diagnosis for Fetal Alcohol Syndrome, I see that some of the symptoms that can overlap between Noonan's Syndrome and Fetal Alcohol Syndrome, but nothing directly comparing and contrasting the two, or anything explicitly stating that they can be a differential diagnosis. So, while plausible, the connection seems weak.