Tuesday, December 14, 2010

Works Cited (Information)

Genetics Home Reference. "Achondroplasia - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. June 2006. Web. 08 Dec. 2010 <http://ghr.nlm.nih.gov/condition/achondroplasia>.

Genetics Home Reference. "FGFR3 - Fibroblast Growth Factor Receptor 3 - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Dec. 2007. Web. 08 Dec. 2010. <http://ghr.nlm.nih.gov/gene/FGFR3>.

Kaneshiro, Neil K. "Achondroplasia - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. 2 Nov. 2009. Web. 08 Dec. 2010. < http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm>.

Clinical Genetics Center. Little People, Big Schools: Preparing the School for Your Young Child with Short Stature. Madison, WI: Clinical Genetics Center, 1997. Print.

Achondroplasia- Parent's Report


Parent’s Report
  • My child will have to deal with the possible harassment of their size difference.
  • Fortunately, there shouldn’t be any medical costs caused directly from Achondroplasia.
  • Buying clothes will be difficult because since my child’s size will not be proportionate to their age so they will have to wear clothes for children much younger or we will have to search for stores that specialize in clothing people with dwarfism.
  • We will have to make arrangements with the school so my child can open the doors, turn on the lights, ect.
 
While the girl on the right is taller, she is younger than the girl in the middle by two years.


 

Achondroplasia- Genetic Counselor's Report

Genetic Counselor’s Report
  • The defect is based on a dominant gene so if any parent has the trait the child has a 50% chance of inheriting the gene. If both parents have it then there is a 75% chance that it will be inherited.
  • If both parents have Achondroplasia and both give the gene with the defect then the offspring will have very severe problems with bone development and if they do manage to be born usually die very early because of respiratory failure.
 

Achondroplasia- Doctor's Report

Doctor’s Report
  • The symptoms of Achondroplasia usually include shortened fingers and limbs, large difference between head and body size, and spine curvature.
  • While the dominant gene may be passed down from the parents it is possible for the child’s FGFR3 (fibroblast growth factor receptor 3) gene to develop a mutation causing the defect.
  • Prevention may be possible if one or both parents have Achondroplasia but because of it’s spontaneity it isn’t entirely possible to completely prevent it.
  • Fortunately the defect only appears in every 15,000 to 40,000 newborns.
  • Because the effects of Achondroplasia limit the child's growth, they might require assistance with things such as opening doors by using a stool.