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Birth Defects

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Paula Krotz

on 12 January 2017

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Transcript of Birth Defects

Turner syndrome is a chromosomal condition that occurs when one of the two chromosomes found in the female is missing or incomplete. It only effects the females. It is a very common chromosomal condition it occurs about 1 out of every 2,500 live births.
Turner Syndrome
Birth Defects
Occurs when one of the two X chromosomes found in females is missing or incomplete. This condition seems to appear randomly there is no known reasoning for it to happen.
Turner syndrome is diagnosed using a blood test known as a karyotype. Karyotype blood testing analyzes the chromosomal composition of the individual and determines whether the X chromosome is missing.
There is no known cure. Growth hormones enhance growth velocity and potentially the final height of the person. They could either be given alone or with a low dose of androgen which is testosteron or male sex hormone.
Is when lip is not connected at top of mouth.
Cleft lip and Cleft Palate

Caused by environmental and hereditary factors.
Can be detected from ultrasound or at birth.

Surgery sews up the gap. Correcting the it.
Spring 2014

Down Syndrome
Down Syndrome is a genetic disease that is developed as a result of an extra chromosome 21. At the time of conception, the fetus inherits genetics from parents, 23 from the father and 23 from the mother a total of 46 chromosomes. In Down syndrome cases, the fetus gets an additional chromosome, chromosome 21, which results in a total of 47 chromosomes instead of the usual 46. The disease causes delays in the developments and physical features. Common traits of Down syndrome are low muscle tone, small stature, and upward slant to the eyes just to name a few. Down syndrome is the most common genetic condition with 1 in every 691 babies in the United States born with the disease. There are roughly 400,000 people in the United States that have Down syndrome and 6,000 babies born with Down syndrome every year in the United States alone.
Ocular Albinism
club foot
The LMNA gene codes for two proteins, lamin A and lamin C, that are known to play a key role in stabilizing the inner membrane of the cell's nucleus. In laboratory tests involving cells taken from progeria patients, researchers have found that the mutation responsible for Hutchinson- Gilford progeria causes the LMNA gene to produce a abnormal form of the lamin A Protein. That abnormal protein appears to destabilize the cell's nuclear membrane in a way that may be particularly harmful to tissues routinely subjected to intense physical force, such as the cardiovascular and muscle.
Growth failure during the first year of life.
Narrow, shrunken, or wrinkled face.
Loss of eyebrows and eyelashes.
Large head for size of face.
Open soft spot
Small jaw
Dry, scaly, thin skin
discribed by hippocrates in the year 400b.c. as a twisted bone deformity
to correct the bones in the foot the docters will wrap the foot in a tight cast with the foot in the correct position untill the bone heals in the normal state in this video you will see how they put the cast on and how they shape the foot the docters use a gell tha will harden the cast the cast will have to be left on for a five to eight weeks the ankle will also appear to be placed where the heel should be in some cases
the tissue in the foot are shorter than normal causing the foot to curv in an odd way that an odd angle that prohibits normal use in life most forms of club foot are visable at birth the effected leg may be shorter than the other
What are some treatments
Early Intervention and Educational Therapy
Physical therapy
Speech-language therapy
Occupational therapy
Emotional and behavioral therapies
Drugs and Supplements
What is down syndrome
down's isn't the end!!
how is it caused?
Ocular Albinism is inherited in an x-linked pattern. Type 1 ocular albinism is caused by defects in the production of pigment,melanin. Type 2 is caused by a defect in the "P" gene. The "P" gene is also known as OCA2 gene. This gene produces pigment called melanin in the melanocytes located in the skin. People with type 2 have light skin coloring at birth.
Mrs. Krotz
Muscular Dystrophy
Muscular Dystrophy (MD) is a group of genetic disorders that effect the muscles. Most people effected with MD will end up in a wheelchair.
Ocular albinism is a rare birth defect. At most it affects at least 60,000 males. This defect is common in males because, it is x-linked. Since males only have one x chromosome it is more likely that it will show up in a male. However being a female and having two x chromosomes it is a lot less likely that we will inherit the defect.
Ocular albinism is a genetic condition that affects the eyes, not the skin. Although in some cases the family member with this defect can be a little bit lighter in skin tone than the other family members.
Some treatments are: younger children may need glasses as they get older they might need bifocals, tinted glasses can help reduce photophobia, and eye muscle surgery can correct abnormal eye movement.
There is no single, standard treatment for Down syndrome. Treatments are based on each individual's physical and intellectual needs as well as his or her personal strengths and limitations. People with Down syndrome can receive proper care while living at home and in the community.
MD is diagnosed through a physical exam, a family medical history, and tests.
muscle biopsy
DNA Testing
blood enzyme tests
looking for creatine kinase
electromyography or nerve conduction tests
Hundreds of genes are involved in making proteins that protect muscle fibers from damage. Muscular dystrophy occurs when one of these genes is defective. Each form of muscular dystrophy is caused by a genetic mutation that's particular to that type of the disease. Many of these mutations are inherited, but some occur spontaneously in the mother's egg or the developing embryo
There are no know cures. Physical therapy may help with muscle strength. Orthopedic appliances such as braces and wheel chairs can improve mobility. In some cases, surgery is an option to improve function.
Corticosteroids taken by mouth can keep children walking as long as possible.
Some symptoms are: poor eye sight both near and far, sensitivity to light, eyes that move uncontrollably from side to side, and when one eye looks at you while another drifts (astigmatism)

club foot is painless but should be treated immediately. if not treated at young age dammage to the foot may be permanent and will not allow the person to walk freely
A genetic test for Hutchinson- Gilford progeria syndrome, also called HGPS, is currently available. In the past, doctors had to base a diagnosis of progeria solely on physical symptoms, such as skin changes and a failure to gain weight, that were not fully apparent until a child's first or second year of life. This genetic test now enables doctors to diagnose a child at a younger age and initiate treatment early in the disease process.
This genetic test for Hutchinson- Gilford progeria syndrome also serves to reassure parents of affected children that thier disorder stems form a spoeradic genetic mutation and that therefore it is unlikely that any future offspring would have the condition.
Maternal serum screening tests
Chorionic villi sampling
this is a pictre of a corrected clubed foot. the metatarsels sometimes have a strange formation after the correction
is also called talipes equinvarus, the foot at the heel is typically smaller than normal, the foot may also be tilted to the side or pointed downward. the front of the foot is also pointed stiffly towards the opposite foot. begining at the ankle the foot is normally curved up towards the pelvis. or in rare cases away from the body
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