Achondroplasia

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  • What Is Achondroplasia?

    Achondroplasia is a genetic pattern inherited in a dominant pattern. It has one mutated gene in each cell that has the ability to cause achondroplasia however in most cases it streams from having a mutation randomly occur in the FGFR3 gene later in life. FGFR3 protein has many versions, which are found in different areas of the body. Many of these proteins are found in the cells that forms bone. FGFR3 is believed to regulate bone growth. Age can effects the mutation, therefore someone who develops achondroplasia later in life could pass a less severe case to their children. “Achondroplasia means without cartilage formation”(3), and is a Greek word. Achondroplasia is actually the most common type of dwarfism effecting almost 80% of all little…

    Words: 954 - Pages: 4
  • Skeletal Dysplasias Research Paper

    Most skeletal dysplasias do not show up until later in child hood. For example babies born with pseudoachondroplasia, a form or short-limb dwarfism, have average birth lengths and do not start to show abnormalities until around age three. Some symptoms that can help diagnosis skeletal dysplasia is children is congenital heart malformation, multiple joint dislocations, polydactyl, and susceptibility to infection. Although most dysplasias are not detectable at birth, around 100 dysplasias are…

    Words: 999 - Pages: 4
  • Achondroplasia Case Study

    Introduction The predominant disease that mutant FGFR3 (fibroblast growth factor receptor 3) gene causes is Achondroplasia. Furthermore, Achondroplasia means the absence of chondrocyte formation in bones. Additionally, the transformation of chondrocytes into bone cells is prevalent in the limbs as well as the facial bones of humans (1). Therefore, the predominant symptom of Achondroplasia is bone growth retardation and is found in the limbs as well as facial bones. The majority of people…

    Words: 1420 - Pages: 6
  • Example Of Reflection In Nursing

    there was ambulance crew putting up privacy screens. When I walked through the double doors I would never have expected to see what I did. The team of doctors, nurses and other professionals were surrounding a 3-month-old baby girl named Katie. I had no idea what was going on, but I just made sure to stay out of the way. I was shocked and honestly didn’t know how to react, but I listened carefully and continued to watch what was happening, it then came to my attention that she had gone into a…

    Words: 976 - Pages: 4
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