Chiari Malformation Research Paper

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Anencephaly is a congenital birth defect and is characterized by the absence of the prosencephalon (fore-brain), cerebrum, cerebellum, and cranium. Part of the brain-stem is usually present. The head usually stops just above the eyebrows and slopes backwards. Since the head stops so suddenly, many babies appear to have bulging eyes. Some are born with cyclopia, the presence of only one eye centered in the middle of the forehead.

Some theories suggest that exposure to hazardous chemicals/substances, lack of proper vitamins and nutrients in the diet, infection, prescription or illegal drug and alcohol consumption during pregnancy can affect the normal head/brain development of the fetus. Chiari malformations can affect individuals of every race and ethnicity. Studies suggest that females are affected more often compared to males. Chiari malformation is thought to be congenital, although some cases may not be discovered until adulthood (sometimes incidentally when a brain scan is done for another

Spina Bifida is the most common permanently disabling birth defect in the United States. Spina Bifida happens when a baby is in the womb and the spinal column does not close all the way.There are four types of Spina Bifida, Occulta, Closed Neural tube defects, Meningocele, and Myelomeningocele. Spina Bifida Occulta is one or more vertebrae are not properly formed. In Closed Neural tube defects it consists of a diverse group of defects in which the spinal cord is marked by malformations of fat, bone, or meninges. Meningocele is spinal fluid and meninges protrude through an abnormal vertebral opening. And Myelomeningocele is the most severe and occurs when the spinal cord/neural elements are exposed through the opening in the spine, resulting

Dandy-Walker Syndrome or Dandy-Walker Malformation is a congenital malformation of the cerebellum and the fluid filled space surrounding it. The malformation can include an enlargement of the fourth ventricle, a partial or complete absence of the space between the two hemispheres of the cerebellum (called the vermis), and a cyst formation near the lowest part of the skull (National Institute of Neurological Disorders and Stroke [NINDS], 2016). Dandy-Walker Syndrome is found in approximately 1 of 25,000 to 35,000 live births and is more prevalent in females than males (NORD-National Organization for Rare Disorders, 2008). Although an exact case is not known, the syndrome may be a result of defects in the embryonic development of the cerebellum. Research has found that in some cases patients have chromosomal abnormalities. Dandy-Walker may also be caused by genetic abnormalities or environmental factors, teratogens (NORD-National Organization for Rare Disorders, 2008). Maternal diabetes and infections passed through the mother to the fetus may also result in a child born with Dandy-Walker Syndrome (Childrens National Health System, 2016).

When I was younger, I would get frequent headaches, which felt like knives going through my skull to say the least. As I got progressively older, the symptoms would get worse until even the slightest inconvenience, such as coughing, would render me paralyzed for several minutes because of the immense pain felt at the back of my head. In May 2013, I would finally be diagnosed with Chiari Malformation. Chiari, in simple terms, is a brain disorder in which the brain is too large for the skull, so the brain hangs over into the spine. This causes

Spina bifida, a type of birth defect meaning, “cleft spine” affects many babies around the globe in that their neural tube incorrectly closes and affects their spinal cord and brain. The three most common types of spina bifida are spina bifida occulta, meningocele, and myelomeningocele—in the order of least to the most debilitating. The birth defect is most commonly diagnosed with the Maternal Serum Alpha-Fetoprotein blood test, as well as other tests. The complications occurring with the most severe case of spina bifida include meningitis and the Chiari II malformation. Spina bifida can be treated with a wide variety and number of surgeries such as prenatal surgery, as well as prevented by intake of folic acid. The birth defect, spina

How did you learn that Kyle has a disability? (Who was present? When did this happen?) If you were giving advice to professionals who need to explain to a parent that his/her child has a special need, what would that advice be?

Two years ago I could remember sitting in class as we discussed current topics that came on the news the night before. The topic of a baby who was born having Anencephaly condition stirred a controversial yet emotional debate. This is a condition where the rostral (head) end of the neural tube fails to close resulting in the absence of a major portion of the brain, skull, and scalp. In other words, the baby has ‘no brain’. The child was born having ‘frog-like’ features, protruding eyes, scaly skin. Also, there was the possibility that he could be blind and deaf. As we sat there sharing our own personal opinions of the situation, the question arose "what would you do if you were the parent of the child?" I started by saying I would have had an abortion the moment I realized that I was going to have a deformed child. I went on to say that I would have left "IT" at the hospital. My friends were extremely angered by the way I spoke about the baby; one got so upset that she started crying. "What have I done?" was my instant thought as I sat there heart pierced in dismay and embarrassment. She then asked the question, "What if your mom had aborted or left your brother at the hospital? What would you think of her?" In my mind, I believe that 's a different situation because his disability is different, so I thought. As I stopped to think, I looked how my de-humanized thoughts and selfish endeavors captivated my entire being. My mind was jailed with cruelty; I spoke like a barbaric

The Chimera of Arezzo (first half of the fourth century., Bronze) was made by the Etruscans. It was found in Arezzo in 1553. It is believed to be part of group of bronze statues depicting a battle. The Chimera is a part of Greek mythology. A monster believed to breathe fire. Its defeat to the hero Bellerophon was a legend, which is why it is portrayed as a battle locked creature bleeding and ready to attack. This sculpture was created as an offering to a god believed to be commissioned by a wealthy Etruscan. It shows how the Etruscans used many different influences from different cultures and made them their own.

Microcephaly is a rare neurological condition in which an infant's head is significant than the rest of the babies of the same age and gender. It can occur because a baby’s brain has not developed properly during pregnancy or has stopped growing after birth. There are over 50 known causes for this rare condition. Microcephaly can occur with no other major birth defects, or it can occur in combination with other major birth defects. There is no telling how long a someone with this condition will live. Some may die after birth and others will live a longer life. Just because they have microcephaly does not mean they can’t live a normal life.

DIAGNOSTIC CRITERIA: Prenatal onset of marked growth deficiency, microcephaly with secondary premature synostosis. Receding forehead, prominent nose micrognathia low set ears malformed ears with the lack of lobule down slanting palpebral fissures. Clinodactyly of fifth finger

ABNORMALITIES: The abnormalities regarding growth are- Prenatal onset of marked growth deficiency. Average birth weight at term is 1543g (1000 to 2005g) Mean postnatal growth is 1543 deficiency is -7.1 SD +/- 2.08. One adult was 104 cm. Delayed bone age. Genitalia showing Cryptorchidism. In Craniofacies abnormalities are: Microcephaly with secondary premature synostosis. In one-half of cases, head circumference is more retarded than height, while for the remainder it is as retarded as height. Receding forehead. Prominent nose, micrognathia, low- set malformed

The Li- Fraumeni syndrome (LFS) is a rare disease that increases the risk of developing several types of cancer, mainly in kids, and young adults. Major causes of the syndrome are changes in the tumor suppressor gene. What that means is a protein that stops the cells from growing and dividing too rapidly or in an uncontrolled way. There are a lot of symptoms for this disease but just to name a few there are acute leukemia, neoplasm of the lungs, breast, colon, and the adrenal cortex. 90% of people get leukemia, breast, colon, and adrenal cortex cancer.