Maia Heath

Prof. Kays

Eng 102-22

11 February 17

Annotated Bibliography

Topic: Pseudoachondroplasia

Source 1: Website

Hecht, Jacqueline T., PHD., and Leah L. Lewis. "Pseudoachondroplasia." NORD

(National Organization for Rare Disorders). NORD, 2017. Web. 11 Feb. 2017.

Pseudoachondroplasia is described by this website as a dwarfing condition that gives a

person a disproportionate short stature and attractive face. This website also gives us another

name for pseudoachondroplasia which is PSACH. The signs and symptoms say that a child with

pseudsoachondroplasia will fall below average height between nine to twelve months. This

website discusses symptoms, signs, causes, affected populations, treatment, diagnosis, and

related disorders. Each part is broken up into its own section. The treatment section of this

website is fairly large because it talks about standard treatment and investigational therapies.

This is very useful to my topic because it gives a brief over view of what pseudoachondroplasia

is as well as what the signs and symptoms are. This website will help me in the future because it

is a website by doctors. This website is also updated frequently to keep up with the new

discoveries about the disorder.

Source 2: Website

Pseudoachondroplasia." The Children's Hospital of Philadelphia. CHOP, 31 Mar. 2014.

Web. 11 Feb. 2017.

This website gives a brief description of what pseudoachondroplasia is.

Pseudoachonroplasia is a rare type of dwarfism that affects one in thirty-thousand people. This

disorder is inherited and affects bone growth. This disease is recognized as short stature that is

not noticeable at birth but becomes visible by age two. This website is very useful for research

papers as well as families looking for treatment for this disorder. I included this website because

it is written by an actual hospital that does research on pseudoachondroplasia. This website did a

good lob on the layout. This website gives a clear understanding of what the disease is as well as

listing doctors that treat pseudoachondroplasia. Testing and diagnosis includes x-rays, MRI, CT

scan, genetic testing, and eos testing. This website makes it easy for people who not have a

medical background to understand what pseudoachondroplasia really is.

Source 3: EBook

Wright, Micheal J., MB, ChB, MSc, FRCP. "Pseudoachondroplasia." GeneReviews. By

Micheal D. Briggs. Seattle: U of Washington, 2004. 1993-2017. NCBI. University of

Washington, 20 Aug. 2004. Web. 11 Feb. 2017

This book focuses on the scientific aspect of pseudoachondroplasia. At the beginning

there is a brief summary of what the sections talk about. Once you go into the sections it explains

everything from a doctors stand point. This book is very useful because it lists the clinical
findings and gives a detailed explanation of pseudoachondroplasia. The clinical findings can be

found under diagnosis which also talks briefly touches on suggestive findings. This book talks

about pseudoachondroplasia form a doctors point of view. Unlike the other book this one talks

about genetic counseling. It talks about the unlikelihood of a person with pseudoachondroplasia

being able to have children because of their size. It gives percentage rates such as fifty percent of

people with pseudoachondroplasia require hip replacement surgery at some point. This is actual

research conducted by doctors. There are tables that talk about the molecular genetics of

pseudoachondroplasia. This book did a good job going in depth of the disorder. The book also

shows an x-ray of a child with pseudoachondroplasia.

Source 4: Book

Klippel, John H. "Multiple Epiphyseal Dysplasia and Pseudoachondroplasia." Primer on

the Rheumatic Diseases. New York: Springer, 2008. 592. Web. 11 Feb. 2017.

This book discussed arthritis and various related diseases. It also says osteoarthritis is

common in people with pseudoachondroplasia. Osteoarthritis is common because of the

excessive joint mobility which can cause multiple deformities. Multiple Epiphyseal Dysplasia

and Pseudoachondroplasia says the bone growth is dramatically slowing and is easily noticed.

The growth rate also worsens with age. Over one hundred diseases are discussed in this book as

well. In this book there are fifty chapters all about different diseases. Each chapter is written by

different specialist contributors. This book groups pseudoachondroplasia with epiphyseal

dysplasia together because they both contain mutations in the oligomeric matrix protein. This

book can be useful in the future if I need to connect pseudoachondroplasia with another disease.
The only bad thing about this book is the topic of pseudoachondroplaisa is very brief and a lot of

information is not given.

Source 5: News Article

Bushak, Lecia. "Researchers Find Potential New Drugs for Dwarfism." Medical Daily.

Medical Daily, 04 Sept. 2014. Web. 11 Feb. 2017.

This article discussed possible treatment for people dealing with pseudoachondroplasia as

well as other forms of dwarfism. The main focus is pseudoachondroplasia and the treatment for

it. The treatment includes trajectories for drugs that could make this disease less severe. This

article also says the lack of growth is widespread by the age of four. This is useful to my theme

because it describes pseudoachondroplasia briefly, then goes right into the research that is being

conducted. The research is being conducted at the University of Texas Health Science Center at

Houston. The drugs are being tested on rats and if they work they will be used on humans. The

article is relevant to what I do in the future because it not only speaks on the disorder but also the

possibilities of treatment. This is a good article because it quotes professors and researchers

directly. The only bad thing about this article is the ads, they are distracting and break up the

paragraphs.