Sunday, November 2, 2014

Connections to Systems of the Body









Endocrine System:

The pituitary gland is part of the endocrine system. The pituitary gland releases the growth hormone and when (for some reason) there isn't enough being released, the deficiency causes pituitary dwarfism.






Skeletal System:

People with dwarfism have shorter statures than most people. The longitudinal bone growth is interrupted by either mutated genes or growth hormone deficiency. Most people with dwarfism also have problems such as scoliosis with their curved spines.









Respiratory System:

Some people with dwarfism may have more trouble breathing. They could develop sleep apnea, which means they stop breathing temporarily during sleep. This is most likely due to their airways being obstructed by tonsils or because of smaller anatomy.





Nervous System:

A small percentage may suffer from hydrocephalus, which is excess fluid around the brain. Also, sometimes there are cases where a person's brain or spinal cord is compressed causing complications and requiring surgery.








 References:
  • "Dwarfism." KidsHealth For Parents : Akron Children's Hospital. N.p., n.d. Web. 02 Nov. 2014. <https://www.akronchildrens.org/cms/kidshealth/5584291d2edb8122/index.html>.
  • Hydrocephalus. Digital image. N.p., n.d. Web. 2 Nov. 2014. <http://aidstation.blogspot.com/>.
  • Pituitary gland. Digital image. N.p., n.d. Web. 2 Nov. 2014. <http://www.nlm.nih.gov/medlineplus/ency/imagepages/17227.htm>.
  • "Skeletal Dysplasia ." Skeletal Dysplasia. N.p., n.d. Web. 02 Nov. 2014. <http://emedicine.medscape.com/article/943343-overview#a0104>.
  • Skeletal system. Digital image. N.p., n.d. Web. 2 Nov. 2014. <http://www.radiologyclub.com/Obstetrics-Antenatal/13-2-Cases-of-Thanatophoric-Dwarfism.html#ia_lightbox[a/admin/aa96b22ab9.jpg]/0/>.
  • Sleep apnea. Digital image. N.p., n.d. Web. 2 Nov. 2014. <http://swendasleep.com/>.

Sunday, October 19, 2014

These People With Dwarfism Have Lives


So everyone has heard of the show "Little People, Big World" unless they live under a rock. I, myself, have never seen the show but I saw the previews when it was on the air. Those actors lived with the condition dwarfism every day and so do these other people who are also famous even if you have never heard of them.



Famous People With Dwarfism
Okay, we're starting with an easy one. Peter Dinklage is an actor most likely known for his role as Tyrion Lannister in Game of Thrones. He has been married since 2005 and has a daughter.
[on short stature]: When I was younger, definitely, I let it get to me. As an adolescent, I was bitter and angry and I definitely put up these walls. But the older you get, you realize you just have to have a sense of humour. You just know that it's not your problem. It's theirs.

Meinhardt Raabe Photos
  This is a picture of Meinhardt Raabe. He is most famous as playing the Munchkin coroner in The Wizard of Oz. After Oz, he was an aviator in WWII. When the Hollywood Walk of Fame Star was dedicated to the 124 munchkin actors in 2007, there were only seven left including Raabe. He attended and spoke his famous line, "As coroner I must aver, I thoroughly examined her. And she's not only merely dead. She's really most sincerely dead.". Raabe died in 2010.





 This has to be my favorite person on the list. This is Linda Hunt. Her most famous work is "The Year of Living Dangerously", in which she portrays a male dwarf. She has done many things in her acting career but I know her from NCIS: Los Angeles. Linda Hunt has hypopituitary dwarfism which is caused by a growth hormone deficiency. On the show, Hunt plays Hetty Lang who is often called small but vicious.




The point of telling you about these people was to show you that just because a person has some type of dwarfism does not mean their lives are over or that they can't even start. Most people who have dwarfism have long and happy lives just like regular people do. Yes, they have obstacles to overcome and things are made harder for them, but things are not impossible. People like the people I have shown you and many more are proof of that.





 
 
 
 
 
 
 
 
 
  • "Biography." IMDb. IMDb.com, n.d. Web. 19 Oct. 2014.
  • "Biography." IMDb. IMDb.com, n.d. Web. 19 Oct. 2014.
  • "Biography." IMDb. IMDb.com, n.d. Web. 19 Oct. 2014.
  • Meinhardt Raabe. Digital image. IMDB. N.p., n.d. Web. 19 Oct. 2014.
  • Linda Hunt. Digital image. N.p., n.d. Web. 19 Oct. 2014.
  • Peter Dinklage. Digital image. Famous People With Dwarfism. N.p., n.d. Web. 19 Oct. 2014.

Saturday, October 11, 2014

How Dwarfism Is Acquired

Dwarfism has many causes, most occurring at birth. This cause is a genetic mutation that can be either inherited or spontaneous. Diastrophic dysplasia and spondyloepiphyseal dysplasias are inherited by recessive genes . This means a child must receive a copy of the gene from both the mother and father to be affected.

                                   
 Achondroplasia is inherited in a dominant manner. That means a child needs only one copy of the mutated gene to have that form of skeletal dysplasia.

                 
                               
                                         

Other types are caused by a deficiency of growth hormone, which can be due to a number of reasons such as a tumor.

                                   







"Dwarfism: Types, Causes, Treatments, and More." WebMD. WebMD, n.d. Web. 10 Oct. 2014. <http://www.webmd.com/children/dwarfism-causes-treatments>.
Hormone deficiency. Digital image. Drugline. N.p., n.d. Web. 11 Oct. 2014. <http://drugline.org/img/term/dwarfism-pituitary-4714_0.jpg>.
Autosomal dominant inheritance. Digital image. Genetics of Pregnancy Encyclopedia. N.p., n.d. Web. 11 Oct. 2014. <http://www.geneticsofpregnancy.com/Encyclopedia/Autosomal_dominant_inheritance.aspx?pid=2&cid=87>.

Sunday, September 28, 2014

Treating Dwarfism

Some types of dwarfism can be diagnosed through x-rays and are visible at birth. Achondroplasia, Diastrophic Dysplasia, and Spondyloepiphyseal Dysplasia can be diagnosed through genetic testing. This testing can be done prenatally in cases where there is cause for concern.

Sometimes dwarfism isn't evident until the later childhood years. There are symptoms and signs that can lead a diagnosis:
  • curvature of the spine
  • bowed legs
  • joint stiffness and arthritis
  • crowding of teeth
  • late development of certain motor skills (sitting up, walking, etc)
  • lower back pain/numbness of legs
People with dwarfism due to a growth hormone deficiency can be treated with growth hormone. Most cases of dwarfism involves orthopedic or medical problems. Some treatments for these problems are:
  • corrective surgeries for bowed legs and other deformities
  • tracheotomy to improve breathing
  • insertion of a shunt to relieve pressure on the brain
  • physical therapy
  • back braces to improve spine curvature
  • orthodontic treatment to help crowding of teeth
 These are just a few symptoms and treatments. There are many deformities and characteristics that could possibly point to someone having dwarfism. There are also many treatments that fix or improve specific aspects or problems. Doctors are always coming up with different ways to treat things and improve medical knowledge, so there will undoubtedly be even more treatments in the years to come.

This is a video of another treatment option: limb lengthening. Limb lengthening is exactly what it sounds like and is done through surgery.

Limb Lengthening



"Dwarfism: Types, Causes, Treatments, and More." WebMD. WebMD, n.d. Web. 28 Sept. 2014. <http://www.webmd.com/children/dwarfism-causes-treatments?page=2>.
"Limb Lengthening for Dwarfism." YouTube. YouTube, n.d. Web. 28 Sept. 2014. <https://www.youtube.com/watch?v=5abjygYUO_k>.

Sunday, September 14, 2014

Physiology of Dwarfism

There are two main categories of dwarfism: proportionate and disproportionate.

In proportionate dwarfism the body is in proportion, but the parts are shortened. This type of dwarfism is commonly caused by a growth hormone deficiency. When the pituitary gland does not produce enough of the growth hormone, children can't grow like they are supposed to.

The other category, disproportionate dwarfism, is caused by skeletal dysplasias which are conditions of abnormal bone growth. There are a few types of skeletal dysplasia that each produce their own form of disproportionate dwarfism.

  • Achondroplasia is the most common form of dwarfism. This condition is visible at birth and is evidenced by a relatively long trunk and shortened upper parts of arms and legs. Some other characteristics would be a large head with a prominent forehead, flattened bridge of the nose, protruding jaw, and others.
  • Spondyloepiphyseal dysplasia (SED) is less common and affects only one in 95,000 babies. This group is characterized by a shortened trunk, club feet, cleft palate, and a few more aspects.
  • Diastrophic dysplasia is very rare and is characterized by shortened forearms and calves, deformed hands and feet, and limited range of motion.

Skeletal dysplasias are caused by genetic mutations which can occur spontaneously or can be inherited. Doctors do not know exactly what causes these mutations. They are seemingly random and can happen to anyone.


    (Achondroplasia in a baby)


"Dwarfism: Types, Causes, Treatments, and More." WebMD. WebMD. Web. 5 Sept. 2014. <http://www.webmd.com/children/dwarfism-causes-treatments>.
"Dwarfism." Symptoms. Web. 14 Sept. 2014. <http://www.mayoclinic.org/diseases-conditions/dwarfism/basics/symptoms/CON-20032297>.
Achondroplasia. Digital image. Achondroplasia. N.p., n.d. Web. 14 Sept. 2014. <http://medicalpicturesinfo.com/achondroplasia/>.

Saturday, September 6, 2014

Introduction

This is an introduction into the pathophysiology of Dwarfism. Everyone probably heard about the show "Little People, Big World" that was on a few years ago. If you didn't hear about it or don't remember, then I'm sorry for assuming. The family that the show centered around dealt with the condition of Dwarfism. I never watched the show, but I knew what it was.

What I did not know was that there were different types of Dwarfism with so many different causes. We will get into more detail of that later. What I can say this week is the fact the Dwarfism is defined by a group called Little People of America as a height of 4 feet 10 inches or under and the average height of an adult is 4 feet.

I chose this pathophysiology because I wanted to learn more about something I had heard of before, but did not directly affect me or someone I knew. This condition intrigues me.

In the coming weeks, I will discuss the different types of Dwarfism, causes of this condition, the potential problems Dwarfism causes, and possible treatments. It will get interesting, so stick around.







  1. "Dwarfism: Types, Causes, Treatments, and More." WebMD. WebMD, 06 Nov. 2012. Web. 06 Sept. 2014. <http://www.webmd.com/children/dwarfism-causes-treatments>.
  2. Thanotrophic Dwarfism. Digital image. Radiopaedia Blog RSS. N.p., n.d. Web. 06 Sept. 2014. <http://radiopaedia.org/images/455198>.