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What chromosome is affected by Marfan syndrome?
Since the traits for hemophilia are carried on the X chromosome and not the Y, it is more probable for females to have a chromosome with the mutation. Since the mutation is considered recessive and males only have one X chromosome, they are more likely to portray the phenotype for hemophilia than their female counterparts.
What condition is characterized by the enlargement of the hands and feet resulting from the pituitary gland producing too much growth hormone after puberty?
Marfan's syndrome is characterized by acromegaly (abnormal enlargement of the hands and feet after puberty)Acromegaly is the name of the condition resulting from too much growth hormone release in adulthood. It results in abnormal growth of the bones and pronounced soft tissue. This results in a fairly proto-typical appearance of a large, bulging forehead, prominent cheekbones, a pronounced mandibular line and abnormally large hands and feet, in addition to other abnormalities. The vast majority of people with acromegaly are found to have a growth hormone secreting pituitary adenoma.
How much does it cost to remove rust?
The cost of removing rust can vary depending on the extent of the rust damage and the method used for removal. It can range from a few dollars for DIY options like rust removers or sandpaper, to several hundred dollars or more for professional treatments like sandblasting or chemical removal.
How much does electricity cost in one month?
It actually depends on how much you you it so If you use it a lot it's gonna cost a lot and if you use it less it's gonna cost less
How much does it cost to use a hot spot?
As much as the provider charges.
How common is glaucoma among Marfan syndrome patients?
This condition is much more prevalent in patients with Marfan syndrome than in the general population.
How much do Ischemic stroke treatments cost?
1.3million
What chromosome is affected by Marfan syndrome?
Since the traits for hemophilia are carried on the X chromosome and not the Y, it is more probable for females to have a chromosome with the mutation. Since the mutation is considered recessive and males only have one X chromosome, they are more likely to portray the phenotype for hemophilia than their female counterparts.
How much does it cost to get help to down syndrome?
anywhere from 300 to 5000 doll hairs
How much are the out of pocket cost for chemo to treat childhood leukemia for 6 treatments in the Philippines?
I'd like to add - if a person is paying cash money for 6 chemo treatments for childhood leukemia how much would it cost? This person lives in the Philippines. Thank you and I need this info ASAP.
How much does bowling ball polish cost?
There are many different surface treatments that can range from a dollar to several dollars.
How much do detoxification therapies cost?
The costs of detoxification therapies can vary widely, depending on the number of tests and treatments required
How much does it generally cost to get laser hair removal treatments?
Hair removal treatments are not that expensive. Actually a certain establishment is offering 67% off to this service which leaves it to $35.00 starting price.
How much does a trip to a spa cost?
It depends on the distance and your method of transport. There will also be the additional costs of any treatments or facilities you use when you arrive. If you use them.
How much does 'Zerona' -Non-Invasive Body Slimming - procedure costs?
The average cost of a Zerona package of treatments is at $1925 according to one online source.
How much does it cost to treat cauliflower ear?
The cost to treat cauliflower ear can vary widely depending on the severity of the condition and the treatment approach. Initial treatments, such as aspiration to drain fluid, may range from $100 to $300. More extensive treatments, like surgical correction, can cost anywhere from $1,000 to $3,000 or more. Additionally, follow-up care and potential complications can increase overall expenses.
Marfan syndrome?
DefinitionMarfan syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures.Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.Causes, incidence, and risk factorsMarfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for elastic tissue in the body.The gene defect also causes too much growth of the long bones of the body. This causes the tall height and long arms and legs seen in people with this syndrome. How this overgrowth happens is not well understood.Other areas of the body that are affected include:Lung tissueThe aorta, the main blood vessel that takes blood from the heart to the body may stretch or become weak (called aortic dilation or aortic aneurysm)The eyes, causing cataracts and other problemsThe skinTissue covering the spinal cordIn most cases, Marfan syndrome is inherited, which means it is passed down through families. However, up to 30% of cases have no family history. Such cases are called "sporadic." In sporadic cases, the syndrome is believed to result from a spontaneous new gene defect.SymptomsPeople with Marfan syndrome are usually tall with long, thin arms and legs and spider-like fingers -- a condition called arachnodactyly. When they stretch out their arms, the length of their arms is much greater than their height.Other symptoms include:A chest that sinks in or sticks out -- funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)Coloboma of irisFlat feetHighly arched palate and crowded teethHypotoniaJoints that are too flexibleLearning disabilityMovement of the lens of the eye from its normal position (dislocation)NearsightednessSmall lower jaw (micrognathia)Spine that curves to one side (scoliosis)Thin, narrow faceSigns and testsThe doctor will perform a physical exam. There may be hypermobile joints and signs of:AneurysmCollapsed lungHeart valve problemsAn eye exam may show:Defects of the lens or corneaRetinal detachmentVision problemsThe following tests may be performed:EchocardiogramFibrillin-1 mutation testing (in some people)An echocardiogram should be done every year to look at the base of the aorta.TreatmentVision problems should be treated when possible. Take care to prevent scoliosis, especially during adolescence.Medicine to slow the heart rate may help prevent stress on the aorta. Avoid participating in competitive athletics and contact sports to avoid injuring the heart. Some people may need surgical replacement of the aortic root and valve.People with Marfan syndrome should take antibiotics before dental procedures to prevent endocarditis. Pregnant women with Marfan syndrome must be monitored very closely because of the increased stress on the heart and aorta.Support GroupsNational Marfan Foundation -- www.marfan.orgExpectations (prognosis)Heart-related complications may shorten the lifespan of people with this disease. However, many patients survive well into their 60s. Good care and surgery may extend the lifespan further.ComplicationsComplications may include:Aortic regurgitationAortic ruptureBacterial endocarditisDissecting aortic aneurysmEnlargement of the base of the aortaHeart failureMitral valve prolapseScoliosisVision problemsCalling your health care providerExperts recommend genetic counseling for couples with a history of this syndrome who wish to have children.PreventionSpontaneous new gene mutations leading to Marfan (less than 1/3 of cases) cannot be prevented. If you have Marfan syndrome, see your doctor at least once every year.ReferencesPyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Ausiello D. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 281.Robinson LK, Fitzpatrick E. Marfan syndrome. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 700.
