The distinct characteristics of a baby with this birth defect are the absence of the skull, the absence of a part of the brain, and presence of facial deformities. Is a genetic defect that occurs after an extra copy of chromosome 21 was formed and in turn causes changes in the normal development of the body and the brain. Physical signs that are common to all children with are flat face, short neck, small ears, slanted eyes, one palmar crease and poor muscle tone.
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