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Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during embryonic development. [1] It is a cephalic disorder that results from a neural tube defect that occurs when the rostral (head) end of the neural tube fails to close, usually between the 23rd and 26th day following conception. [ 2 ]
As of 2008, treatments of NTDs depends on the severity of the complication. No treatment is available for anencephaly and infants usually do not survive more than a few hours. Aggressive surgical management has improved survival and the functions of infants with spina bifida, meningoceles and mild myelomeningoceles. [66]
Little genetic counseling can be offered for acrania because the genetic origins are not fully understood. In order to make genetic counseling for families easier this disease is often differentially diagnosed with other diseases that can occur at the same time such as anencephaly and acalvaria, though these diseases may not always occur simultaneously. [1]
Jaxon Emmett Buell (August 27, 2014 – April 1, 2020) was an American child known for being born missing about 80% of his brain due to anencephaly. [1] He surpassed doctors' expectations, who predicted he would not live to see his first birthday. He actually lived over five-and-a-half years.
Then at 20 weeks, she went in for an ultrasound. The technician left the room and came back with the doctor. They told them the baby had anencephaly, which means she was missing parts of her skull ...
This disorder was first discovered in 1968, [4] when a mother and 3 of her children (4 cases) were described with the symptoms mentioned above. In this case, additional features were found in a majority of the patients; three of the patients had esophageal indentation and left ligamentum arteriosum, two of the patients, a still-born baby, had anencephaly.
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The diagnosis of lissencephaly is usually made at birth or soon after by ultrasound, [19] computed tomography (CT), or magnetic resonance imaging (MRI). [20] However, these results should be interpreted cautiously since even experienced radiologists can misdiagnose polymicrogyria , a different developmental malformation of the brain, as ...