From Embryology

Lab 4 Online Assessment

  1. The allantois, identified in the placental cord, is continuous with what anatomical structure?
  2. Identify the 3 vascular shunts, and their location, in the embryonic circulation.
  3. Identify the Group project sub-section that you will be researching. (Add to project page and your individual assessment page)


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z3290808 11:59, 13 October 2011 (EST)

z3290808 14:06, 20 October 2011 (EST) (Dr. Hill i WAS in this lab - i just forgot to stamp while in the lab thus am doing it now. Sorry for this.)


Identify the origin of In Vitro Fertilization and the 2010 nobel prize winner associated with this technique.

  • In vitro fertilization (IVF) is a fertility technique with a history that can be traced back to as early as the 1890's when the transfer of rabbit embryos from one mother to another was achieved successfully by Walter Heape (Metro IVF, 2011). The first ever attempt to fertilize a human egg in vitro was in 1973, although this attempt was unsuccessful as the embryo failed to implant itself into the wall of the uterus. The first successful attempt at IVF was with the birth of Louise Brown on 25th July, 1978, in Oldham, Greater Manchester, UK. Brown became known as the world's first successful IVF baby conceived outside the human body (Monash IVF, 2011). Credit for this achievement was given to embryologist Dr. Robert G. Edwards and gynecologist Dr. Patrick C. Steptoe.
  • Dr. Robert G. Edwards was awarded the 2010 Nobel Prize in Medicine or Physiology for his development of IVF.

Identify a recent paper on fertilisation and describe its key findings.

  • This article’s main objective is to examine the effect of a woman’s body mass index (BMI) on ovarian response to stimulation and the outcome of IVF. Singh et al., (2011) found that oocyte quality decreased with increasing BMI; resulting in reduced clinical pregnancy rate and thus impairment of IVF outcome. It was also evident that as the woman's BMI increased, so did the required dose of gonadotropins. This increase in required gonadotropin in obese women undergoing IVF reflected a state of 'gonadotropin resistance' which was shown to lead to "increased number of days required for ovarian stimulation and higher cancellation rates, lower serum peak estradiol (E2) levels, and reduced number of oocyte retrieved" (Singh et al., 2011). Also, increasing BMI of women undergoing IVF led to a decrease in fertilization and cleavage rate, most likely due to poorer oocyte quality as a result of increased BMI. Thus, it is evident that a woman's BMI plays a considerably significant role in how successful IVF will be for her. [1]

Identify 2 congenital anomalies.

  • Trisomy 21 (Down Syndrome)
  • Polydactyly

Reference List

  1. <pubmed>21792549</pubmed>

Metro IVF. (2011). History of IVF. Retrieved August 02, 2011 from

Monash IVF. (2011). History of IVF. Retrieved August 02, 2011 from


Identify the ZP protein that spermatozoa binds and how is this changed (altered) after fertilisation.

  • The Zona Pellucida glycoprotein that acts as the primary receptor for spermatozoa binding during fertilization is ZP3.
  • Once the sperm binds to ZP3,the acrosome reaction is induced. This reaction involves the exocytosis of acrosomal enzymes which function to digest the zona pellucida, allowing proteins on the surface of sperm to bind ZP2. As a result of this, membrane fusion occurs which in turn causes membrane depolarization; the primary block to polyspermy. Once the spermatozoa fuses into the oocyte, the cortical reaction takes place. This is when the contents of the sperm's cortical granules are released and act to remove carbohydrate from ZP3 (so that it can no longer bind to the plasma membrane of the sperm) and partially cleave ZP2 (which results in hardening of the zona pellucida). These mechanisms prevent additional sperm from entering the egg. [1]

Identify a review and a research article related to your group topic.

Articles on Fragile X Syndrome:

- This review focuses on the molecular and biochemical pathways shown to be relevant in the Fragile X Syndrome. It describes that a mutation in the FMR-1 gene was found to lead to Fragile X Syndrome due to excessive repeats of the trinucleotide sequence CGG which is known to inactivate the FMR-1 gene, making the X chromosome fragile and prone to breakage. This review article also demonstrates the many vital functions of the FMR-1 gene such as its role in RNA transport and stability, thus absence of the protein transcribed and translated from this gene is thought to affect brain development and thus leads to signs of mental retardation. [2]

- This research article explores the two molecular differences of the FMR-1 gene in normal individuals vs. those with Fragile X Syndrome. These differences are an increase in size of an FMR-1 exon containing a CGG repeat and abnormal methylation of a CpG island 250 bp proximal to this repeat. This research article also shows how these two abnormalities repress transcription of the FMR-1 gene, leading to the absence of the FMR-1 protein which is thought to be the contributing factor to the Fragile X phenotype. [3]

Reference List

  1. <pubmed>20831819</pubmed>
  2. <pubmed>21196228</pubmed>
  3. <pubmed>1301913</pubmed>


What is the maternal dietary requirement for late neural development?

The maternal dietary requirement for late neural development is Iodine. Iodine deficiency induces neonatal hypothyroidism (cretinism). This ultimately leads to impairments of cerebellar development as sufficient thyroid hormone is vital for the normal development of the cerebellum during late neural development. [1]

Reference List

  1. <pubmed>21611807</pubmed>

Sample Picture Upload (Done In Lab).

Differentially expressed RefSeq genes in human trisomy 21

Differentially expressed RefSeq genes in human trisomy 21.jpg

File:Differentially expressed RefSeq genes in human trisomy 21

Upload a picture relating to your group project.

FMR4 is silenced in fragile X syndrome

FMR4 is silenced in fragile X syndrome.jpg

File:FMR4 is silenced in fragile X syndrome

--Mark Hill 11:15, 14 August 2011 (EST) Well done. You can also link the reference from the figure legend, like the example below.

FMR4 is silenced in fragile X syndrome [1]


  1. <pubmed>18213394</pubmed>


The allantois, identified in the placental cord, is continuous with what anatomical structure?

  • The allantois, originating from the endodermal layer of the trilaminar embryo, is continuous with the superior end of the developing bladder.

Identify the 3 vascular shunts, and their location, in the embryonic circulation.

  • Foramen Ovale: connects the right and left atria.
  • Ductus arteriosus: connects the pulmonary artery and descending aorta.
  • Ductus venosus: connects the umbilical and portal veins to the IVC.

Identify the Group project sub-section that you will be researching.

  • Recent Research with a focus on the relationship between Autism and Fragile X Syndrome.
  • Diagnosis
  • Treatment


Which side (L/R) is most common for diaphragmatic hernia and why?

  • 85% of Congenital diaphragmatic hernias (CDH) are left sided. The most common form of CDH is the classic posterolateral or Bochdalek hernia. Bochdalek hernia is a congenital anomaly which occurs as a result of the protrusion of intra-abdominal organs (such as the intestines and stomach) into the thoracic cavity (causing the lungs to compress) via an abnormal opening in the infant’s diaphragm. The reason why it is most common on the left side is most probably due to the earlier closure of the right pleuroperitoneal opening. [1]

--z3290808 22:21, 31 August 2011 (EST)

Reference List

  1. <pubmed>12359645</pubmed>


What week of development do the palatal shelves fuse?

The fusion of the two palatal shelves occurs in week 9 of embryonic development. During this period of time, the secondary palates fuse with each other as well as with the primary palate. [1]

What early animal model helped elucidate the neural crest origin and migration of neural crest cells?

Studies using the chicken model helped to explain the neural crest origin and migration of neural crest cells. Also, in the 1980’s, LeDouarin carried out transplantation experiments on chicken/quail chimeras that aided in the understanding of neural crest migration by identifying the migration path and final destination of the neural crest cells that were transplanted. [2]

What abnormality results from neural crest not migrating into the cardiac outflow tract?

Failure of the neural crest to migrate into the cardiac outflow tract may result in an abnormality such as Tetralogy of Fallot. Other abnormalities that may occur as a result of this include persistent truncus arteriosus, mispositioning or elongation of the outflow tract as well as cushion hypoplasia. [3]

--z3290808 09:38, 15 September 2011 (EST)

Reference List


Are satellite cells (a) necessary for muscle hypertrophy and (b) generally involved in hypertrophy?

a) Satellite cells are not necessary for muscle hypertrophy, however, they are b) generally involved in hypertrophy as can be seen by their increase in number of cells during hypertrophy.

Why does chronic low frequency stimulation cause a fast to slow fibre type shift?

Chronic low frequency stimulation (CLFS) releases electrical signals which are similar to that of which slow muscle fibres experience. When fast fibres are exposed to the CLFS signals, it induces an adaptive response in which there is a shift from fast fibres to that of slow fibres. The sequence of fibre shift is IIb, IIx ,IIa, I which is in relation to the ‘next neighbour’ rule. --z3290808 10:25, 22 September 2011 (EST)

Trisomy 21 Peer Assessment


  • The introduction is not very well structured. It does not give an overview of what is to come and does not initially evoke the reader.
  • I like the internal links used on this page such as “nondisjunction” which takes you directly to the glossary section. This saves the reader time and effort instead of having to look up the meaning of the unfamiliar words.
  • “Aneuploidy is the term used to describe any abnormal number of chromosomes either an increase or decrease in total number.” This sentence seems out of place. Perhaps an internal link to the glossary (like that of the word “nondisjunction” used earlier) should have been provided as it does not link in with the rest of the introduction- the word was not even mentioned anywhere else in this introduction.
  • I like the extra links provided at the end of the introduction which allow the reader to read up on some extra information, however, some links are repeated in both “genetic links” and “diagnosis links” such as “prenatal diagnosis.” Also, some links are not very related to Trisomy 21- these may confuse the reader and we don’t want them to completely deviate away from the subject at hand.
  • I like the image – it helps to visualise the genetic abnormality of Trisomy 21. The image, however, is lacking a name at the bottom. Also the image does not contain a copyright notice!
  • There is only one reference in this whole introduction- not good enough. 1st, 3rd and 4th paragraphs are not even cited!

Some Recent Findings:

  • Firstly, I don’t think this section should be placed here. I think it should appear later on the page, possibly towards the end?
  • I like how this section is arranged structurally, however there are some issues. Firstly, it is not sufficient to merely quote the information as a whole. If a quote is required, it should not make up the bulk of the information. This information should have been put into your own words. Also, the references should be placed directly after the quote (not as done here).
  • This is a good image; however I don’t think it belongs under this heading as it does not display any recent findings. I think it more shows some of the facial phenotypic characteristics of the disease. I think it should be in the signs and symptoms section of this page – however the dilemma I found is that this page actually lacks a specific “signs and symptoms” subheading which I think is imperative, especially for this specific genetic disorder which shows many phenotypic characteristics. From the looks of it the image has been referenced appropriately with the inclusion of the copyright notice.

Trisomy 21 (Down Syndrome) Karyotypes:

  • The two images are good and referenced adequately. Do they need a copyright notice however? They help to visualise the genetic abnormality of chromosome 21 associated with this disorder in both males and females which is good.
  • The description below could be more targeted at the images above. An explanation of the difference between the male and female karyotype would have also been good.
  • It just seems like this section is slightly too brief, although it does get the message across.
  • Lack of references of the text in this section!

Associated Congenital Abnormalities:

  • To make it look more professional, the first letter after the bullet point should be a capital.
  • Only one reference for this whole list?
  • I like the “(More? Hearing Abnormalities)” section for readers who are interested in reading further.
  • The image in this section is too small as a thumbnail. It also has no title so the reader does not know what they are obtaining from the image before they click onto it. The image is not referenced appropriately. I think the image does not need to be there- it does not seem to complement the adjacent text of this section.

Heart Defects:

  • Links are good, however same issue as above – would look more professional with the bullet point starting with a capital letter.
  • No references in this section which is worrying considering you have provided percentages that need to be justified with an appropriate citation.

Limb Defects:

  • Quite a brief section but is okay in structure.
  • Only one reference for this section?
  • Image is appropriate and complements the writing of this section. It also has a title, thus the reader knows before even clicking onto it what it encompasses. Image reference seems adequate.

American College of Obstetricians and Gynecologists Recommendations:

  • This section is overall good, however I am not too sure if it is appropriate to dedicate an entire section to this?


  • Interesting section- it says “Listed below are some sample data from different world regions” although the reader is only provided with data based on Ireland and USA. If it’s possible to obtain, more data on many other countries would be good to allow the reader to gain insight into the prevalence of the disorder worldwide.
  • References have been included which is good.

Down's syndrome Screening:

  • This section is possibly too long and dense with information – you may lose the reader!
  • I don’t think the image of “John Langdon Down” is appropriate for this section on screening of down’s syndrome. Maybe this could go in the introduction? Also this image has not been properly referenced and no copyright notice has been displayed.
  • The image of the “Tandem SNP Analysis Process” seems appropriate for this section and is satisfactory referenced.
  • Parts of this section are not referenced.

Meiosis I and Meiosis II:

  • “A recent study[19] has analysed two large USA studies…” I do not think this should be a section on its own. It could very well be added into the “Some recent findings” section.


  • Firstly, no references in this section!
  • Secondly, as with the previous section, I do not believe this information should be dedicated an entire subheading. It could easily be incorporated into the glossary via an internal link such as the one used in the introduction.

Trisomy 21 Growth Charts:

  • “Data from this paper…” Which paper? Please reference exactly which paper and include authors of paper as well as year published.
  • Once again I do not think this should be dedicated to an entire sub heading. It does not seem directly relevant.
  • Nevertheless, graph charts are good with appropriate references and titles.
  • As I have mentioned in a previous comment, it is not very good to quote a whole paragraph. Try to put this in your own words and maybe only quote a vital piece of information.

References + Glossary:

  • References seem to be formatted correctly. However, I think 20 references is insufficient for this amount of information and data.
  • Too many subheadings for individual forms of references. This may overwhelm the reader!
  • Glossary is good and in alphabetical order so it is made easier for the reader to locate the word.
  • The Glossary links section at the bottom is good.

Overall Comment:

  • Structure needs refining and referencing was a consistent issue. Creator needs to read over the page and edit where appropriate. Otherwise, sound and interesting information on Trisomy 21 has been provided for the reader.

--z3290808 23:06, 21 September 2011 (EST)


Peer Assessments

Turner Syndrome (Group 1) Peer Review:

Introduction: This introduction is quite interesting. It covers most topic areas that will be addressed later in the page. However, the main issue I found with the introduction is its poor grammar and sentence structure. This may slightly put the reader off when reading and we do not want this to happen – especially when you have such an interesting topic. Such examples include: “which is complete by the time the infant, is aged 2” which does not require a comma in between “infant” and “is”.

Epidemiology: Once again good content but sentence structure does not make sense at times. Example: “phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome” – delete “is” – it is not needed. Also, the abnormalities image in this section needs to be re-visited. It lacks copyright notice, the student template as well as a full reference in the information section. The karyotype image presents with the same problems – note that “Copyright © Indian Journal of Human Genetics” is not sufficient as a copyright notice as it does not state that the information is open access and that you can re-use it.

Etiology: Great information in this section and great use of the two images. They work well with the information and help the reader to visualize what you have said in words. Limited number of references in this section. Did you really obtain all of this information from the one source?

Clinical Manifestations: This section needs more work. It is merely a list which needs to be further expanded and explained. It may help to organize this information into a table. Also consider placing a picture in this section as it would make it more appealing to the reader.

Diagnostic Procedures: I found this section to be the most well balanced and explained. The reader can tell you have done your research with the abundance of references in this section. Also, the images are very good and help depict visually what you are describing in your text. Well done with this section.

Treatment: This section is sound. More work could be attributed to this section- possibly greater detail in some headings such as speech. Also, a picture once again is a good idea to include to break up the text.

Current/ Future Research: Well done. It seems a lot of work has gone into this section; however maybe place the text in a different format? Possibly add a picture? But otherwise good content!

Glossary: Good set-out. However, needs completion.

References: This section is lacking in quality. Not all references have been referenced using the correct format. The same reference such as “↑ P Saenger, K A Wikland, G S Conway, M Davenport, C H Gravholt, R Hintz, O Hovatta, M Hultcrantz, K Landin-Wilhelmsen, A Lin, B Lippe, A M Pasquino, M B Ranke, R Rosenfeld, M Silberbach, Fifth International Symposium on Turner Syndrome Recommendations for the diagnosis and management of Turner syndrome. J. Clin. Endocrinol. Metab.: 2001, 86(7);3061-9 PMID:11443168” repeats many times in the list. It should appear as the one reference with many links to the citation, represented with numbers such as 1.1, 1.2 etc. Please see instructions for how to reference correctly in “editing basics” in the “shortcuts” tab of the wikipage on the left hand side.

Overall the page displays good content and technique. Some areas need more work than others. Good luck!

DiGeorge Syndrome (Group 2) Peer Review:

Introduction: Well introduced topic. Picture needs description at bottom. Seems to be referenced appropriately.

Historical Background: Extensive timeline which is good. Try to be a little bit more consistent with the colon – either place it after the date or not. Also, picture seems a bit random and needs to have a description at the bottom so that the reader knows what it encompasses.

Epidemiology: Could be a bit more spaced out to make it easier for the reader to read through.

Etiology: Good information and referencing. Try to include a picture in this section as it would help the reader visualize what you are conveying in words.

Pathogenesis/ Pathophysiology: This section is well done. Information is good and images are well-drawn and also contain a relevant description at the bottom. Well done!

Diagnostic Tests: Very extensive. Great use of images. Could you possible also find an image for amniocentesis and BACS? Some image references are not in the correct format and images in this section need to have a label at the bottom.

Clinical Manifestations: This section is well done as well. Possibly too much information which may overwhelm the reader though.

Treatment: Slight inconsistency with the formatting, but otherwise no major dramas. Also possibly more images needed in this section.

Current and Future Research: This section is quite interesting. Research is extensive and images are good – however, they lack correct referencing format and the student template in the information section.

Glossary: Extensive. Well done.

Overall, good job!

Klinefelter's Syndrome (Group 3) Peer Review:

Introduction: Information needs to gloss over the entire page a little bit more. Also, the image used has not been referenced correctly and needs to have a copyright notice and the student template.

History: Seems a bit repetitive at first glance. Would it be possible to combine all of this information into the one table? Otherwise, information is good.

Epidemiology: Information is good, however the picture on the left hand side is too small. They have been referenced well.

Aetiology: Picture in this section is slightly ambiguous. Some readers may get confused. Possible more information as to what the picture is portraying. Also, reference the picture and make sure it has a copyright notice.

Pathogenesis: Good information and great hand-drawn images. Possibly need to be slightly larger and explained further. Only 2 references in this whole section?

Signs and Symptoms: Good, succinct list. However, maybe a bit more description? Also, images seem out of place. The images need to have correct referencing format and need to contain the student template. First image is too small.

Diagnosis: Good information. Image needs proper referencing and student template.

Management: Image needs a label at the bottom. Otherwise good image.

Other Similar Defects: This section was well done!

Current Research: Good information but possibly break up the text with a picture or two. Well done and good luck with editing!

Huntington’s Disease (Group 4) Peer Review:

Introduction: Good content. Possibly include a picture to get the reader interested from the beginning.

History: Great section! Many references which shows you have done your research. Possibly make the dates bold so that they stand out more. Good use of quote. Image needs to be referenced properly and lacks a student template.

Epidemiology: Extensive! Great use of tables and explanation of the tables! Well done.

Genetics: Great detail in this section. Images are well drawn and relevant to the information. Remember to include a student template in these images.

Molecular Mechanisms and Pathogenesis: Great use of subheadings to organize the text. Image is good, just try to format the reference better and once again, include the student template.

Clinical Manifestations: Image is slightly too small as a thumbnail. Good information, however, I think this section would benefit with a table to help better organize the information.

Diagnostic Tests: Very extensive section. Good use of images, however maybe their placement needs to be more thought out. Also, delete the subheading for the video as this is irrelevant. Great use of video- stimulates the viewer!

Treatment: Table is very extensive and well done. This section is impressive! Images need to have a student template and correct referencing.

Current/ Future Research: Good information in this section. Image on right needs a label at the bottom.

Glossary: Heading needs to be to the left – it is slightly distorted by the image above it. Extensive glossary.

References: Well done, a lot of research has been done.

Overall, impressive page!

Tetralogy of Fallot (Group 6) Peer Review:

Introduction: Good content, however possibly revise grammar and structure of some sentences. Also, it would engage the reader more if they could visualize what you are saying through an image.

History: This section has the relevant information, however try using a different format to represent your ideas, such as a timeline or a table? Fallot image lacks a student template and images need to have the correct referencing format. Maybe too wordy for history? Try to make it a bit more succinct.

Epidemiology: Slightly short. Can you elaborate?

Signs and Symptoms: Good use of links to redirect the reader to more information. Image is good, however I think you could maybe put more images in this section to break up the text. Try revising some of the sentence structure. Otherwise, the information in this section is good.

Genetics/ Aetiology: This section is good, however some things need to be further explained. Example: “Gene affected = NKX2-5” – could you elaborate on this? Images are good and relevant.

Pathophysiology and Abnormalities: This section is impressive! Images are excellent and help the reader understand what you are describing in words. The fetal blood flow image lacks a student template. This section needs to be referenced.

Diagnostic tests: Obviously a lot of information here. I am sure I do not need to tell you that this section is incomplete. Images need to be added. I am slightly confused as to why there is a reference directly below the table? Couldn’t this be added to the reference list with the other references?

Treatment/ Management: This section is good. Image needs a student template, but otherwise well done.

Prognosis: Good information. However, surely you did not gather all of this information from the one reference? Also, maybe a picture would help to break up the information.

Future Directions: Good idea. This section is good.

Glossary: Could be expanded.

Overall, the page is coming along well. Nice work and good luck with the editing process!

Angelman Syndrome (Group 7) Peer Review:

Introduction: Summarizes whole page which is good. An image in this section would be good to engage the reader from the beginning.

History: Could you perhaps merge the information all into the one table? Seems slightly repetitive. Referencing needs to be completed.

Epidemiology: Too succinct. Possibly elaborate a little bit more?

Aetiology: This section seems to be well done. Student-dawn image is impressive. Well done.

Pathogenesis: Very extensive information! A lot of research has gone into this section. Images are good, however the first image to appear in this section is too large and lacks a label to describe what the image is about. Otherwise, this section is well done.

Signs and Symptoms: This section is also well done. Good to see many references. Information is interesting and the picture is relevant. However, the image lacks a properly formatted reference and a student template.

Complications: This section seems too brief compared to the other sections.

Diagnosis: This section is extensive, however needs to be organized in a more easy to understand manner. It is slightly confusing when reading due to the subheadings. Also the flow diagram needs a label at the bottom and the student template as well as proper referencing.

Related Diseases: Is this section needed? If it is, elaborate further. It does not seem complete.

Treatment and Management: Needs an image, if possible, to break up the information. Good use of table to organize information. More references are needed. Why is there a reference below the table? Couldn’t this be placed within the reference list with the others?

Prognosis: Good information and many references which is good.

Genetic Counseling: Is this needed as a subheading on its own? Content is confusing and too brief.

Current and Future Research: This is a good idea. Possibly an image to break up the information as it seems like a slab of information at the moment.

Glossary: Very extensive well done.

Friedreich’s Ataxia (Group 8) Peer Review:

Why is there a massive gap at the beginning?

Introduction: Impressive and to the point. Gives good overview of topic. Image reference is not in correct format.

History: Possibly make image above slightly smaller so that it does not drag into this section. Many references which is good to see. Good format of timeline.

Epidemiology: This section is impressive. Looks like much research has gone into this section.

Aetiology: Extensive information which is good. Could you make the self-drawn images a bit darker? Last image lacks student template. Good use of subheadings to organize information.

Pathogenesis: This section is good, however if possible it could be further elaborated. Image in this section is very nice, although is lacking a student template.

Neuropathology: This section is impressive! It is very detailed. Good balance of images and text. Great self-drawn images, however could you possibly further describe what the images are depicting? Otherwise, well done.

Clinical Presentation: Content is good. Images could be spaced out a bit more.

Diagnosis: This section is also impressive. Very detailed and great use of tables. Could you add more images into the relevant sections of the table?

Treatment: Information is good, however at the moment it looks like a slab of information. Possibly balance it out with some images.

Current Research: Many references which is good. Once again, an image would be good.

Glossary and references are good, however place the glossary before the references.

Overall, good job!

Williams Syndrome (Group 9) Peer Review:

Introduction: The content is interesting, however try adding an image to interest the reader.

History of the Disease: This is possibly too much information- may bore the reader. Otherwise, it is very well researched. Once again a picture would help to break up the huge slab of information.

Genetic Factors and Etiology: This section is impressive. The image is good and contains all of the relevant information. Well done. Also the table is a nice touch.

Diagnosis: This section needs many more references. The picture is good. The information is written well.

Epidemiology: This section is good, however I am not too sure about merging management and treatment within the epidemiology subheading? Just a thought. Also, a picture is necessary to break up the information.

Phenotype of William Syndrome: I like the use of the table – helps to organize the information. Referencing needs to be completed as currently there are no references in this section.

Cardiac/ Genitourinary Conditions: It seems like a huge slab of information that needs more images to help balance it out. Information is extensive though, well done.

Endocrine: Good use of subheadings. Thyroid subheading has no references?

Other Associated Medical Conditions: Great use of table. Could you add a picture into this section?

Cognitive, Behavioural and Neurological Phenotype: Wow, a lot of detail has gone into this section. Not enough references. Image is interesting. Possibly cut down on some of the information in this section, or add more pictures as there is too much text and you may lose the reader as a result.

Structural Differences in the Brain: Not enough references in this section. It is a slab of text, try breaking it up more. Insert more spaces within the paragraphs.

Specialised Facilities and Supportive Associations: Is this section necessary?

Current research and developments: Good summary of the research however seems a bit brief. Glossary: Could be a bit more extensive.

Overall, good job and good luck with the editing process!

Duchenne (Group 10) Peer Review:

Could you include “Duchenne Muscular Dystrophy” as the first subheading so that the reader knows exactly what the disease is at first glance? Just a suggestion.

Introduction: Topic well introduced and good use of image. Image, however, is lacking a student template.

History: Very extensive. Possibly include an image to break up the text.

Epidemiology: Sound. Some sentences are not worded/ structured properly.

Aetiology – Genetics: Information is good. Impressive self-drawn image. Well done.

Pathogenesis: An image would definitely work well in this section. Information is otherwise good, however possibly have a greater focus on the genetic component?

General Signs and Symptoms of Duchenne’s Muscular Dystrophy: This section seems too brief. Elaborate further.

Clinical manifestations and complications: Information is good. Possibly more detail for the subheading “smooth muscle.” Image lacks a student template. “&&&” – what is this? Many references in this section which is good to see!

Diagnosis: Could be elaborated further.

Treatment: Current and Future Prospects: The first paragraph lacks referencing. Possibly include an image? Table is a good idea, however colours chosen are slightly off-putting. Glossary of terms: Could be more extensive. Not complete.

Well done.

Cleft Palate and Lip (Group 11) Peer Review:

Introduction: Too brief. Elaborate further. Image would make it more interesting too.

History/ Timeline: Could you combine these two together? They seem relevant together. The image in timeline lacks a student template and proper referencing format. Otherwise, timeline is extensive which is good to see.

Diagnosis: Should this section appear so early into the page? Great use of tables to break up the text. Try inserting some images into this section if possible.

“Syndromes and Anomalies associated with cleft” – the subheading in itself seems incomplete. This section is impressive. Images are great! Some lack student templates. Some bullet points could be further explained.

Development: Aetiology section has no references. This section needs to be described further. Image lacks a label at the bottom and seems mal-aligned.

Types of Cleft Palate/Lip: Bullet points could be better explained. Good use of images, however they lack some information such as the student template. Second image of this section is slightly too small as a thumbnail and pierces into the section below.

Pathophysiology: Good use of tables, however they seem too brief. Lack of references. “DRAWING!!! To be added soon.” – good idea. Information needs to be better organized. Genetic Configuration: An image would be good to break up the large slap of text. References are missing.

Neuroembryology and functional anatomy of craniofacial clefts: Image lacks proper referencing format and student template. Information is extensive which is good, however once again try spacing it out more and organizing it better.

Treatment: Drawings are good with the relevant information, however the one on the left hand side seems slightly out of place. The bullet points are very brief.

Problems associated with Cleft Palate: No references. Needs to be elaborated. An image would work well in this section to help visualise some of the problems.

Current and Future Research: I am sure you know that this section needs much more work.

Glossary: Needs more terms.

Gallery: Good idea but seems incomplete.

A good effort so far!

--z3290808 10:37, 29 September 2011 (EST)


There was no assessment posted for this week.


Besides fetal alcohol syndrome, identify another environmental teratogen that can lead to hearing loss.

Another environmental teratogen that can lead to hearing loss is cytomegalovirus (CMV). "Congenital cytomegalovirus (CMV) infection [acquired by the developing fetus] is the leading infectious cause of mental retardation and hearing loss in the developed world." [1]

Identify 3 factors that contribute to poor neonatal drainage of the middle ear.

1. In the neonate, the Eustachian tube is shorter (17-18mm)and narrower in diameter when compared to that of the adult.

2. The Eustachian tube runs almost horizontal in the neonate.

3. Also, the neonatal Eustachian tube is opened by only a single muscle, the tensor palati muscle. This is contrasted with the aduct Eustachian tube which is opened by two separate muscles, the tensor palati and levator palati muscles.

These 3 factors contribute to poor neonatal drainage of the middle ear.


Identify 1 genetic abnormality that affects hearing development and link to the OMIM record.

Usher Syndrome (TYPE IIA; USH2A) is a genetically heterogeneous autosomal recessive disorder which is characterised by sensorineural hearing deficiencies at birth followed later by the development of progressive retinitis pigmentosa. It is the most common cause of combined deafness and blindness in adults. It affects 3 to 6% of children born with hearing impairment. [OMIM - USHER SYNDROME, TYPE IIA; USH2A]

--z3290808 14:00, 10 October 2011 (EST)

Reference List

  1. <pubmed>19136436</pubmed>


Name the components that give rise to the interatrial septum and the passages that connect the right and left atria.

The components that give rise to the interatrial septum include the septum secundum and septum primum. Initially, it is the septum primum that divides the atrium. This membranous structure grows downwards from the roof of the heart, forming the foramen primum. The septum secundum is the second structure that forms to the right of foramen primum. This muscular structure grows downwards, forming an opening called the foramen ovale. Therefore, later in development, the passages that connect the right and left atria are the foramen ovale and foramen secundum.


Identify the cardiac defects that arise through abnormal development of the outflow tract.

The cardiac defects that arise through abnormal development of the outflow tract include:

  • Transposition of the Great Vessels
  • Double Outlet Right Ventricle
  • Common Arterial Trunk
  • Ventricular Septal Defect
  • Tetrallogy of Fallot
  • Pulmonary Atresia/ Stenosis
  • Aortic Stenosis
  • Interrupted Aortic Arch


--z3290808 10:59, 20 October 2011 (EST)


Give examples of 3 systems that continue to develop postnatally.

  • Gastrointestinal system
  • Respiratory system
  • Cardiovascular system

All of the systems named above continue their development postnatally.


Identify the abnormalities detected by the Guthrie Test and link to one abnormality listed in OMIM.

The abnormalities screened for in the Guthrie Test are the following:

  • Homocystinuria [Homocystinuria OMIM Link]
  • Congenital Hypothyroidism
  • Congenital Toxoplasmosis
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency
  • Cystic Fibrosis
  • Maple Syrup Urine Disease
  • Toxoplasma gondii IgM antibodies
  • Congenital Adrenal Hyperplasia
  • Phenylketonuria (PKU)
  • Biotinidase Deficiency
  • Galactosemia


--z3290808 09:58, 24 October 2011 (EST)