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Doctor insights on: Carrie Malformation

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Is chiara malformation hereditary?

Is chiara malformation hereditary?

Chiari malformation: Over the years there has been a good deal of discussion about heredity. There have been reported families with more than one family member having a chiari - in my own practice the pressence of multiple family members with chiari has been quite rare. ...Read more

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Is arnold chiari malformation type one a neural tube defect?

Is arnold chiari malformation type one a neural tube defect?

No: The more accepted term is chiari malformation as arnold-chiari is an older term. This type of malformation is not a neural tube defect, but rather an abnormal migration of the cerebellar tonsils below the level of the foramen magnum (chiari type 1). This defect is attributed to a congenitally small posterior fossa, thus allowing the cerebellar tonsils to migrate downward. ...Read more

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Arnold chiari malformation, what constitutes a botched surgery?

Arnold chiari malformation, what constitutes a botched surgery?

Chiari surgery: Surgery for a chari malformation is rather straight forward - a "botched" surgery is rare, in some rare cases further surgery might be indicated if the symptoms are not resolved - this assumes there were no complications during the procedure. ...Read more

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Anyone operated on arnold chiari malformation?

Anyone operated on arnold chiari malformation?

Many times: Chiari type two is arnold chiari. It is associated with spina bifida, hydrocephalus, syrinx, and apnea. Aggressive surgical management is often necessary at birth and during early infancy. The anomaly can not be cured. Release of pressure is the only treatment. ...Read more

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What causes arnold chiari malformation?

No one knows: Chiari described malformations of the cerebellum. Arnold added the defects in the brain associated with spina bifida. This became known as chiari type 2 or arnold chiari. There is kinking of the medulla and fourth ventricle, obstruction of the outlet of the fourth ventricle, peaking of brainstem, fusion of thalamus, as well as hydrocephalus and incomplete closure of spinal cord. ...Read more

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Hello docs, is chiari malformation genetic?

Hello docs, is chiari malformation genetic?

Not know for sure: Information on genetics being investigated.Duke University Medical Center is investigating the hereditary basis of Chiari type I malformations with or without syringomyelia The research is aimed at learning if caused by inheritance factors. ...Read more

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What is arnold chiari malformation type one?

What is arnold chiari malformation type one?

Mild malformation: AC type 1 involves low lying cerebellar tonsils. at the level of the foramen magnum. Usually asymptomatic and picked up as an incidental finding on work up for another condition. ...Read more

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Is microcephaly a genetic disease?

Is microcephaly a genetic disease?

It can be: Primary microcephaly is an autosomal recessive genetic disorder. Microcephaly is also a feature of other genetic disorders with multiple features. Microcephaly however is not always a genetic condition. A clinical geneticist or neurologist will be able to perform evaluations to determine the cause of the microcephaly. ...Read more

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What is chiari malformation?

What is chiari malformation?

Can be symptomatic: Chiari malformation type i is neurological disorder where cerebellum (or more specifically the cerebellar tonsils), descends out of the skull into the spinal area, resulting in compression of parts of brain and spinal cord, and disrupts normal flow of cerebrospinal fluid.Type ii involves extension of both cerebellar and brain stem tissue into the foramen magnum. Associated with myelomeningocele. ...Read more

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What is chiari malformation?

What is chiari malformation?

Low cerebellum.: The tip or bottom of the cerebellum, the posterior brain controlling coordination, may extend be too low, and lie behind the spper spinal cord where it can get pinched. Chiari is graded according to severity. Wickipedia has a good article on chiari malformation listing the grading. ...Read more

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Is renal arteriovenous malformation curable?

Is renal arteriovenous malformation curable?

No: No real treatment unles very symptomatic or riskk oof losing a kidney although the likelyhood of this necessity is small as long as the kidney functions normally. However as you have two kidneys you may not know when and if this kidney faiils without continual followup with your physician and routin urin evaluations. ...Read more

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Chiari malformation: is it disabling, painful, hereditary?

Chiari malformation: is it disabling, painful, hereditary?

Arnold Chiari: There are several types of chiari malformation. Type one consists of an extension of the cerebellum below the foramen magnum. Most people with that do not have any symptoms. Type 2 is associated with a spinal cord malformation. Under certain circumstances the malformation may move further through the foramen magnum and prevent the flow of spinal fluid and increae pressure on the brain. ...Read more

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How is holoprosencephaly malformation complex caused?

How is holoprosencephaly malformation complex caused?

Neuronal migration.: Holoprosencephaly is a developmental anomaly typically found in trisomy 13 (patau syndrome) and associated with neuronal migration anomalies resulting in fusion of the cerebral ventricles and hemispheres. ...Read more

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Is there a genetic test to catch an arnold chiari malformation early?

Is there a genetic test to catch an arnold chiari malformation early?

Not yet: Arnold chiari malformation can occur by itself or in association with other congenital abnormalities. There is no specific genetic test for arnold chiari yet. ...Read more

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How is a chiari malformation diagnosed?

Check NIH: Check nih's "nationalinstitute of neurological disorders and stroke": http://www.Ninds.Nih.Gov/disorders/chiari/detail_chiari.Htm all the facts you need are there. ...Read more

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Is a neural tube defect a chromosomal mutation or a gene mutation?

Is a neural tube defect a chromosomal mutation or a gene mutation?

Both or neither.: While neural tube disorders can be a genetic mutation (gene is a functional unit of heredity occupying a specific spot--locus--on a chromosome), they occur most commonly in the setting of Folic Acid deficiency during pregnancy--hence prenatal vitamins with folic acid. Ntds occur in 1/1000 births, and range from spina bifida occulta to anencephaly. ...Read more

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Do breech babies carry congenital defects?

Do breech babies carry congenital defects?

Rarely: Rarely does this happen where babies have congenital defects that are severe enough that they either neurological impair the baby and prevent movement or simply get in the way of a baby being able to flip on its own. This is a rare cause of breech though. ...Read more

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What is a chiari malformation?

It is: Chiari described different types of developmental defects of the cerebellum. Type 2 is associated with spina bifida, type 3 and type 4 are severe defects. You are probably talking about type 2 associated with spina bifida. It can cause breathing and swallowing problems. Treatment with surgery is controversial. ...Read more