Doctor insights on:
How To Detect Marfan's Syndrome Early
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
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
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 moreSee 1 more doctor answer
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
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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
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
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