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Doctor insights on: How To Detect Marfan's Syndrome Early

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Can you tell me how turner syndrome affect development ?

Can you tell me how turner syndrome affect development ?

Short: girls with turners are usually short, they dont have full breast tissue compared to others their age, but have breast buds. they have streak ovaries, so they are not fertile. They also have webbed necks. The breast buds, are far apart on the chest- called wide spaced nipples. ...Read more

Dr. Chevies Newman
1,113 doctors shared insights

Premature (Definition)

Very premature is a condition in which a baby is delivered between 28 and 31 weeks' gestation. Depending on how premature, how sick, and how lucky or unlucky a baby is, he can get brain problems, cerebral palsy, blindness, deafness, developmental problems, learning disabilities, severe lung diseases, infection and loss of some intestines, etc... Babies who are only moderately premature usually ...Read more


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Can you tell me how can the chromosomal conditions , trisomy x, xyy syndrome and turner syndrome differ?

Can you tell me how can the chromosomal conditions , trisomy x, xyy syndrome and turner syndrome differ?

Good online sites: Xxx and xyy have relatively little impact on those who have them and are usually incidental findings -- this is actually true despite the hoopla over xyy. I have three physician colleagues who have turner's xo and do fine. http://ghr.nlm.nih.gov/ is really good (thanks uncle sam). ...Read more

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What tests can I do to detect the early stage of heart problem?

What tests can I do to detect the early stage of heart problem?

Heart problem: Symptoms of heart disease are shortness breath, chest pain, palpitations, swelling of feet etc - some tests are ekg, cardiac screen, echocardiogram, treadmill, stress echo, nuclear stress tests, cardiac cath etc. Depending on the diagnosis. ...Read more

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Is it possible for marfan's syndrome to be detected prenatally?

Is it possible for marfan's syndrome to be detected prenatally?

Not Likely: The diagnosis depends on specific physical criteria (ghent criteria). I am not abreast of the most recent genetic diagnostic tests, but i can quite confidently say that not all (and in fact, i don't believe any) cases of marfan can be detected prenatally. Please discuss this with your OB for further information. ...Read more

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How early can a scan detect pregnancy?

How early can a scan detect pregnancy?

Around 5 weeks: Very early changes may be seen by 5 weeks but fetal heart activity will reliably be seen by 7 weeks (on transvaginal scans). ...Read more

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Can karotyping detect 22q11.2 deletion syndrome? What is the standard pediatricians use if they are testing for genetic disorders?

 Can karotyping detect 22q11.2 deletion syndrome? What is the standard pediatricians use if they are testing for genetic disorders?

No: Usually for a 22q11.2 syndromes, a diagnostic technique called FISH is performed. There are numerous ways to detect genetic issues and the diagnostic modality will depend on what one is looking for. This may include simple karyotyoing to more sophisticated gene sequencing. A genetic counselor may be able to help you. ...Read more

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Which test can I do to detect the early stage of heart problem?

Which test can I do to detect the early stage of heart problem?

Heart : Get together with your doctor and discuss your concerns and your situation. If you are at particular risk for some kind of heart problem, your doctor can advise you and test for it. ...Read more

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How do you diagnose the disease neuromyotonia(isaac's syndrome)?

How do you diagnose the disease neuromyotonia(isaac's syndrome)?

See below: It is usually diagnosed by physical examination as well as a test called an EMG which involves placing a special needle in the muscles. The muscle produce a certain type of EMG signal which is characteristic of neuromyotonia. ...Read more

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Can you tell me how often klippel-trenaunay syndrome occurs?

Can you tell me how often klippel-trenaunay syndrome occurs?

1 in 100,000: Incidence is 1 in 100, 000. Involves overgrowth of bone combined with vascular malformation - such as port wine stain. ...Read more

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How can we detect gigantism by the signs and symptoms?

How can we detect gigantism by the signs and symptoms?

Unusual bone growth: Gigantism is known medically as acromegaly and results from abnormal production of growth hormone, usually from the pituitary gland. Children exhibit excessive height as the usual the first sign. Adults with abnormally high levels of growth hormone usually develop a thickened brow, chin, large hands and have problems with bone growth in general as well as collagen problems and heart problems. ...Read more

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Can an ultrasound detect aperts syndrome?

Can an ultrasound detect aperts syndrome?

Yes: It may be difficult to detect until the third trimester, however. ...Read more

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How would paget-schroder syndrome be diagnosed? Mri?

How would paget-schroder syndrome be diagnosed? Mri?

Exam and ultrasound: Paget-schroetter syndrome presents with swelling and pain. May have thoracic outlet compression, or trauma- effort thrombosis. Examine arms, chest, veins compression and do ultrasound exam. Traditionally venogram was done. Some may respond to lytic therapy and some may need surgery for first rib resection. ...Read more

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Are there genes to tell how long someone will survive with patau syndrome?

Are there genes to tell how long someone will survive with patau syndrome?

No: Most infants with patau syndrome die within their first year. There is no genetic test to explain the variation in survival. ...Read more

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How to diagnose brown syndrome?

How to diagnose brown syndrome?

MRI: A rare disorder, in which the tendon of the superior oblique eye muscle becomes entrapped. Mri and mr angiography are recommended studies, the MRI study may need to be performed with gadolinium enhancement. ...Read more

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What tests are done to diagnose Marfan Syndrome?

Multiple : There is no single test for Marfan's Syndrome. After the clinical suspicion raised, a detailed exam with a focus on heart with EKG and Echo, imaging and genetic history will be needed for the confirmation. ...Read more

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How early can you diagnose breast cancer?

How early can you diagnose breast cancer?

VERY early!: How? Regular mammograms. As many as a third of all breast cancers detected by mammography are stage 0 (dcis), with cure rates that approach 100%. Furthermore, cancers can often be detected on mammography years before they could ever be palpated. ...Read more

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How to confirm gilbert's syndrome?

How to confirm gilbert's syndrome?

Gilbert's disease: This is a common and benign condition where on a fasting lab your total and indirect bilirubin are elevated. Your liver is having problems conjugating the bilirubin. The rest of your liver enzymes should be normal and often the bilirubin is normal in a non fasting state. ...Read more

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What fetal tests can be done to determine down's syndrome?

What fetal tests can be done to determine down's syndrome?

CVS, amnio, NIPT, NT: Chorionic villus sampling (placental biopsy), amniocentesis, non-invasive prenatal genetic diagnosis (maternit21/harmony tests), nuchal translucency and prenatal ultrasound and maternal serum markers (papp-s, hcg, estriol, inhibin a) can all be used to determine an individual woman's risk of carrying a fetus with down syndrome. ...Read more

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How can turner syndrome affect development ?

Online resources: Turner syndrome is caused by absence of one of the female x chromosomes and can have several effects on growth and development. The genetics home reference is a good source for information on chromosomal conditions: http://ghr.Nlm.Nih.Gov/condition/turner-syndrome. Two other good sources are the turner syndrome society and foundation: http://turnersyndrome.Org ; www.Turnersyndromefoundation.Org. ...Read more

Dr. Scott McLean
336 doctors shared insights

Marfan Syndrome (Definition)

An inherited connective tissue disorder where body shape is long thin arms hands and fingers and arm length ...Read more