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Published on : Jan 08, 2015
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Slide 1 - Achondroplasia (dwarfism)
Slide 2 - Medical Achondroplasia is a dominant, autosomal mutation. One would inherit this condition if the parents carried the gene 80% of the cases, people with dwarfism have normal parents that simply acquired the gene over time. There is really only one genotype for this condition and it is heterozygous because if a fetus was homozygous dominant, the child would die shortly after birth. This disease has a prevalence of ~1: 25,000 A person with Achondroplasia has a 50% chance of passing the mutation on to their offspring, 25% chance of having a normal child, and a 25% chance of the child dying shortly after birth Achondroplasia is diagnosed with a prenatal ultrasound and the condition is diagnosed by looking at the skeletal structure, and a DNA test to detect if the child has both of the dominant chromosomes This condition’s symptoms are the following: Short stature Shortening of the limbs Large head and forehead Abnormal spinal curvature Bowlegged or knock knee deformities Frequent ear infections Sleep apnea
Slide 3 - Medical cont. Most people with Achondroplasia have a normal life expectancy This disease is often treated by the controversial method of limb lengthening which repeatedly breaks the bones of the limbs and and separates the 2 sides of the bone, allowing the limb to heal which makes it longer. Scientist are currently doing research on the protein that is affected in Achondroplasia which could lead to a better understanding of the condition and perhaps even a cure.
Slide 4 - Personal People afflicted with achondroplasia are often subject to public scrutiny due to their stature and often take a lot of abuse from people who do not understand the condition The physical limitations are pretty obvious, we live in a world built for average sized people and being a dwarf can cause some difficulties like not being able to reach things. Some organizations that help with dwarfism are Little people of america: www.lpaonline.org www.shortsupport.org Little people’s research fund: www.lprf.org Human growth foundation: www.hgfound.org March of dimes birth defects foundation: www.marchofdimes.com
Slide 5 - Bibliography en.wikipedia.org/wiki/achondroplasia www.medicinenet.com/achondroplasia/article.htm www.marchofdimes.com/professionals/14332_1204