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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 ]
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]
A child must also exhibit four other symptoms in order to be clinically diagnosed. However, according to the Omnigraphics Health References Series: Depression Sourcebook, Third Edition, [35] a more calculated evaluation must be given by a medical or mental health professional such as a physiologist or psychiatrist. Following the bases of ...
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.
Stephanie Keene [1] was born at Fairfax Hospital in Falls Church, Virginia, a hospital in the Washington metropolitan area.At the time of her birth, she was missing most of her brain, including the cortex; only the brainstem, the portion of the brain responsible for autonomic and regulatory functions, such as the control of respiration, the heartbeat and blood pressure, had developed.
There are a variety of symptoms that can occur in children. Infants with microcephaly are born with either a normal or reduced head size. [10] Subsequently, the head fails to grow, while the face continues to develop at a normal rate, producing a child with a small head and a receding forehead, and a loose, often wrinkled scalp. [11]
Physicians often use magnetic resonance imaging to confirm the diagnosis because in utero, acalvaria is sometimes confused with anencephaly or encephalocele. [2] A distinguishable difference is that with anencephaly, the cerebral hemispheres are missing, but with acalvaria, all parts of the cerebrum are usually present and developed, whereas ...
The prognosis for infants born with exencephaly is extremely poor. It is rare to find an infant born with exencephaly, as most cases that are not early stages of anencephaly are usually stillborn . Those infants who are born with the condition usually die within hours or minutes. [ 2 ]