Achondroplasia

the genetic condition Achondroplasia, which accounts for 70% of all dwarfism cases and occurs in one out of every 25,000 live births (Pauli, 1998). Achondroplasia (ACH) is one of many genetic anomalies which causes the condition dwarfism it is an autosomal dominant condition but in about 80% of cases results sporadically from a G1138A mutation in the transmembrane receptor of the FGFR3 gene which is located on chromosome 4 (Liu et al., 2015). All people with achondroplasia have a single copy…

to produce a decent amount supply of growth hormone, which is essential for normal childhood growth. There are 3 different types of dwarfism: Achondroplasia, Spondyloepiphyseal dysplasia (SED), and Diastrophic dysplasia. The most common form of short-limbed dwarfism is Achondroplasia. It causes a disproportionately short stature within dwarfs. Achondroplasia occurs in about one in every 15,000-40,000 babies, and…

throughout its length as well as a lower fifth lumbar vertebra which appears between the ilia. These features can often delay motor development milestones like walking as well as lead to several physical conditions (Pauli, 1998). Although people with Achondroplasia can live a full life expectancy many infants with ACH are at risk of death due to craniocerval junction related anomalies with the mortality risk peaking as high…

Achondroplasia is a non-lethal form of chondrodysplasia which means “without cartilage formation” (Chawla et al., 2012).8 Other rhizomelic dwarfing disorders such as hypochondroplasia and thanatophoric dysplasia are part of the differential diagnosis. However, in comparison with achondroplasia the changes in hypochondroplasia are milder and the changes in thanatophoric dysplasia are much more severe and always lethal (Trotter and Hall, 2005).9 Dental development can be delayed in…

Evolving our Genetic Ideas Evolution was a recognized theory long before heredity was properly understood, however, Darwin has allowed us to understand human evolution to a far greater extent than he would have ever imagined. Genetics can be expressed in many different ways. The more often a specific phenotype is observed within the population may relate to how favourable that phenotype is for survival. This is because of relative frequency and lethality. Relative frequency is the number of…

Dwarfism? No it’s not a dwarf from the movie The Hobbit. Dwarfism means that at full growth someone measures under 4’10”. People with dwarfism usually are born with normal intelligence. A fact that most people don’t believe is that someone who is born with dwarfism is more likely to be born to parents who are both of average height. There are more than 300 different conditions that cause a form of dwarfism. There are two main categories, proportionate, and disproportionate. Disproportionate is…

upset baby is also enjoyable to me. During this semester, I assessed many newborn; I assessed a few babies that were only hours old, a brand-new baby, as well as, babies in the nicu. I saw a wide range of babies; for example, a nicu baby with achondroplasia to a completely healthy, smiling 2-hour old baby. Throughout the semester, I learned how to work on assessing the babies heart rate, as this is difficult at first. My strategy is to quietly count under my breath, will lightly taping my finger…

Throughout this essay I will discuss and reflect on one of my experiences in the practice setting that I was involved in delivering nursing care to a patient. Andersen (2016) states that reflection is hugely important to engage in throughout the nursing profession and that it is essential to student nurses throughout our clinical placements as we are involved in new experiences each day. We learn an extensive amount on placement as we observe and participate in new things. By looking back and…

Name: Maryam Sadiqa Group Members: Oralia Reyes Anny Then Anthony Mayers Date of lab performed: 06/4/16 Date of submission: 06/23/16 Lab Name: Genes in Human Population lab Page number: 57-66 Purpose of the lab: The purpose of this lab was to work with a partner and identify your partners and as well as your own phenotype and genotype. We did that by deeply observing our bodies and then determining whether we have the following traits. PTC, Darwin’s ear point, ear lobe attachment,…

planned to abort it they would be killing a fetus that had no major irregularities. The purpose of genetic testing is to do the testing in order to prevent the babies from being born with abnormalities that can affect them later in life, such as achondroplasia. If you plan on misusing the testing in order to fulfill your own needs instead of reasoning about what would be best for the fetus’ health that shows irresponsibility and should not be allowed by the center. Another way to show…