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Doctor insights on: Patau Syndrome Treatment

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Goldenhar syndrome treatment?

Goldenhar syndrome treatment?

Birth defect: Congenital birth defect that affects the development of the ear, nose, mandible, and palate. ...Read more

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Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Crouzon: Crouzon craniofacial dysostosis was described by crouzon in 1912. The genetic cause was not identified until 1994 and the credit goes to a number of different geneticists - reardon and preston independently helped narrow the genetic inheritance to the fgfr2 gene. ...Read more

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Whats patau syndrome?

Whats patau syndrome?

What is it.: Patau's syndrome is the presence of various dysmorphic features in a child a set of three chromosomes 13. This is called trisomy, in this case, trisomy 13. ...Read more

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What causes patau syndrome?

What causes patau syndrome?

Extra chromosome 13: Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. Symptoms include polydactyly, holoprosencephaly, coloboma of the iris, scalp defect, clenched, overlapping fingers, many midline defects, severe mental retardation, short life spans(<1yr avg) ...Read more

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What causes patau syndrome?

What causes patau syndrome?

It's not: Patau syndrome arises from a non-disjunction event prevents the 18 chromosome from dividing its pair & sends 2, not one to the egg. At conception the sperm brings along another 18 & there ends up being 3. The presence of the extra 18 causes the developing fetus to misread the genetic instructions and many defects occur. ...Read more

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Hows patau syndrome inherited?

Hows patau syndrome inherited?

Not inherited: Patau syndrome, or trisomy 13, is not inherited, in that a baby does not "get it" from either parent. It is usually caused when the egg does not divide properly at the time of fertilization. This accident causes a baby to get an extra number 13 chromosome in every one of its cells. Trisomy 13 is rare, but a very serious condition. Most babies with it die before birth or shortly after birth. ...Read more

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What is antiphospolipid syndrome (hughes syndrome)?

What is antiphospolipid syndrome (hughes syndrome)?

Antiphospholipids: An autoimune disorder characterized by antibodies to certain phopholipids that predisposes to clotting problmes and pregnancy complications. A certain percentage will develop into systemic lupus. ...Read more

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What is patau syndrome, a trisomy?

Trisomy 13: Patau syndrome is also called trisomy 13. It occurs when a baby has 3 copies of the number 13 chromosome instead of the usual 2 copies. It causes severe physical problems and most babies with trisomy 13 die before birth or within the first year after birth. It usually happens because of an accident which occurs when the egg is fertilized, and occurs more commonly as mothers get older. ...Read more

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What is turners syndrome prognosis?

What is turners syndrome prognosis?

Turner's Syndrome: The prognosis for turner's syndrome diagnosed at birth is usually good. They will be short. They have streaked gonads. They can have a webbed neck. There can be lymphedema. There can be associated perceptual problems. They are not necessarily mentally retarded. There can be coarctation of the aorta. ...Read more

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How exactly is patau syndrome inherited?

It isn't: This syndrome results when an egg with a pair of chromosome 13 (instead of 1) joins with the male's 13 at conception leading to a distortion of the information in each cell of the body.Multiple birth defects are common and these kids do not live very long. It is not inherited on the genes. ...Read more

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Who discovered patau syndrome?

T. Bartholin: Patau syndrome which is a duplication of chromosome 13 was originally described by thomas bartholin in 1657. ...Read more

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What is patau syndrome cause?

What is patau syndrome cause?

Non-disjunction.: The majority of cases of the lethal patau or trisomy 13 syndrome are caused by nondisjunction (47, +13) related to advanced maternal age. Robertsonian translocations of either parent can increase the risk for that couple, although most affected embryos die in utero. ...Read more

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Anyone treated hellp syndrome?

Anyone treated hellp syndrome?

Yes: The cure for hellp syndrome is delivery. The good news is it usually develops late in the pregnancy. Although the baby maybe premature, many of them will do fine. Your doctor may give steroids in order to help the baby's lungs mature more quickly. Medication maybe used to control blood pressure, prevent seizures, and correct problems with blood clotting. Transfusion of blood poducts maybe needed. ...Read more

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Is pallister killian syndrome curable?

Is pallister killian syndrome curable?

No: Pallister killien is a random defect of the 12th chromosome. It has muliple far reaching effects. It is evidenced by hypotonia, developmental delay, itellectual impairment, coarse features, sparse hair. It is not hereditary. Once a person has it one can only cope with the defect to try to ameliorate the symptoms, ie hearing defects with a hearing aid, etc. ...Read more

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How is palliser killian syndrome treated?

How is palliser killian syndrome treated?

Medically and surgic: It is a chromosomal disorder which results from an extra anomalous chromosome. Sometimes it can be detected prenatally by ultrasound. There are specific and varied physical features that identify the syndrome. ...Read more

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Is munchausen syndrome curable?

Is munchausen syndrome curable?

Yes, with difficulty: Munchaussen's syndrome is difficult to treat because, in most cases, the individual really does not want to get treatment. Once he/she does want treatment it can be treated with depth insight-oriented psychotherapy. ...Read more

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How is the genetic abnormality patau syndrome inherited?

How is the genetic abnormality patau syndrome inherited?

Non-disjunction.: The majority of cases of the lethal patau or trisomy 13 syndrome are caused by nondisjunction (47, +13) related to advanced maternal age. Robertsonian translocations of either parent can increase the risk for that couple, although most affected embryos die in utero. ...Read more

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How is zollinger-ellison syndrome diagnosed?

How is zollinger-ellison syndrome diagnosed?

ZE: This is diagnosed by performing a blood test to look for high levels of gastrin (the hormone secreted by gastrinomas). Your doctor may also ask to perform tests to measure how much acid your stomach is producing. ...Read more

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Who discovered crouzonodermoskeletal syndrome (crouzon syndrome)? What is it?

Who discovered crouzonodermoskeletal syndrome (crouzon syndrome)? What is it?

Crouzonodermoskeleta: Crouzonodermoskeletal syndrome involves premature joining skull bones & acanthosis nigricans. Louis edouard octave crouzon (1874–1938) published “une nouvelle famille atteinte de dysostose cranio-faciale héréditaire” in archives de médecine DES enfants, paris, in 1915. So I am guessing that he discovered crouzon syndrome prior to that publication. ...Read more