Case Study: Marfan Syndrome

Mr. Szafranski deposited his sperm to be frozen and used as a back-up on the date Ms. Dunston’s eggs were eventually retrieved. In addition, they both signed an informed consent document that not only outlined the risks involving in vitro fertilization, but stated that there could be

The story begins with Lane A. Dean, Jr. sitting in a park with his newly pregnant girlfriend, Sheri. Struggling with their moral values and religious beliefs, the couple sits in silence as they look out over the water, neither able to face the other. They have been “praying and talking about how to deal with an unspecified calamity that has befallen them” (Derbyshire 44). They have already scheduled the appointment, but neither knows for certain that this is what they want to do. When Lane

1. The meaning of Duchenne muscular dystrophy is a severe form of muscular dystrophy caused by a genetic defect that can be characterized by a disturbed growth of cardiac and skeletal muscles. It usually affects boys. In 1861, a French neurologist, Guillaume B. Duchenne, was the first person to give a detailed description of this syndrome.

What do Michael Phelps, Abraham Lincoln, Osama Bin Laden all have in common? They are all diagnosed with Marfan Syndrome which is a disorder of the connective tissues in the body. It is estimated that about 1 in every 3000-5000 people in the world is diagnosed with this disorder (Frey, 2005), that means about 140 000 000 to 233 333 333 people around the world’s population live with the struggles brought by Marfan syndrome. It may not seem like a big deal since so little of the world is diagnosed, but Marfan syndrome can cause some serious life-threatening symptoms. This report will explore the ins and outs of Marfan syndrome, from what it actually is to diagnostic and treatment techniques.

I sighed and looked at the test, and she was telling the truth, I was pregnant. It was entirely impossible, but that is not what scared me. I threw the test away and picked up my phone. I dialed Ashton’s number, thankfully he was awake. “Dals, it’s three am? What do you need?” Ashton’s raspy voice had shook me to tears. “Look, I just need to talk to you alright.” I say and went into the bathroom. “Ashton, I just took a pregnancy test, and it came up positive, I really need brotherly fucking advice right now!” I cry and he was speechless. “Isnt Michael..” He trailed off and I stayed quiet. “It’s michaels, great.” Ashton sighed. Brooklyn had stirred awake and asked him who he was talking too. The line was quiet for a moment till Brooklyn had

Public backlash against Jennifer Cramblett quickly began. While most agree that the couple has a right to sue over the sperm “mix up”, it is Jennifer Cramblett’s reasoning that has many up in arms. Rather than focusing on the grave clinical error, the complaint more so focuses on that of the “injuries” Cramblett and Zinkon now face due to having a “mixed racial” child.

Marfan Syndrome, which is named after Antoine Marfan who first described the disorder in 1896, is a genetic disorder that affects the connective tissues found throughout the body. This syndrome can affect many different parts of the body, but the most commonly affected are the heart, blood vessels, bones, joints, respiratory system, nervous system, and eyes. Thankfully, a person’s intelligence is never affected. Marfan syndrome affects people from all races and ethnic backgrounds, and this often makes it hard to detect. It is a pretty rare genetic disorder affecting only about 1 in every 5,000 people.

Marfan syndrome is a genetic mutation of the FBN1 gene which codes for a protein that contributes to the connective tissue in the body and releases certain growth hormones (Callewaert et al., 2007). A mutation in this gene contributes to a variety of signs and symptoms usually involving skeletal deformations like long bone overgrowth, causing elongated limbs and spinal conditions like scoliosis and kyphosis (Callewaert et al., 2007). Retina detachment is common in those with Marfan syndrome and cardiovascular complications may include aortic dilation, dissection and rupture and up two thirds of patients develop mitral valve dysfunction (Callewaert et al., 2007). R.C. has experienced detached retinas,

“Breaking News! During the afternoon of April 23rd, Dr. Phil Johnson was found dead in his office. The murderer is unknown, but luckily for us former detective Stan Walter, a good friend of Phil’s has taken the case into his hands. If you have any thoughts to who the murderer is please report it to the police. Back to you Alex!” The tv turns black and I look over to see who the culprit was and it was my wife Rosalind. “Honey, I know it’s devastating about your loss, but your food is getting cold. Now come eat.” “Ok” I respond, annoyed. At dinner my wife and I talk about the decision of taking the job as the detective for Dr. Phil Johnson’s death since he is my friend. Eventually, she gave in and let me go to my office.

Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this

This syndrome is inherited in families in an autosomal dominant manner. Since Marfan syndrome is autosomal dominant, people with this disorder can be either homozygous dominant or heterozygous. This means that people carrying even one copy of the altered gene will have the disorder. Mutations of the FBN1 gene has been linked to the Marfan syndrome, although not everyone who has this mutation develops the disorder.

Joey Jones, a 14-year-old African American child who just seems too tall, is referred to genetic clinic. A physical exam revealed the following parameters and features:

"Thank god," Zach Henderson muttered beneath his breath when he walked through the doors of the clinic, barely able to believe he'd managed to successfully comply with the clinic's rigorous restrictions. Sure, he could have went to one of the three other sperm donation facilities on campus, but Zach's class schedule afforded him no time for a part-time job. Desperate for some cash he felt he had no choice but to go to the one that paid five times more than its competitors.

Flashback to July 18th, 2001. A cool summer day, but not any ordinary day for the newly married Wilsons. Her name was Julia Wilson and his was Thomas Wilson. This was the day that would end up changing their lives forever. Thomas had been watching football in the living room of the apartment they could barely afford when Julia decided to take a break and use the bathroom. Meanwhile, she was taking a pregnancy test and was starting to worry. They could barely afford their apartment. If she had a child, how would they be able to pay for it? Well, the test was positive and at that exact moment, her fear became reality. She was so frightened to tell her husband that she didn’t do so for a couple weeks until their economic situation began to stabilize.

Marfan syndrome is a genetic illness with significant morbidity and death (1). Prevalence appears to be similar across the world, regardless of gender, and the estimate in the European countries is 1 in 10,000 (2). The average expectancy used to be 32 years, but improved surgery increase life expectancy to approach that of the entire population (3). The level to which individuals are affected differs and those with the syndrome tend to be tall, thin and with long legs, arms, fingers as well as toes (4). It is important to discuss the symptoms, pathogenesis, diagnosis, and management of the syndrome.