Disorders of peroxisome assembly and function
Aug. 15, 2022
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"Craniorachischisis with total deficiency of the brain and spinal cord. The skull is covered with ragged membranous masses, the open spinal cord groove is covered with a tender skin (pia mater). A few whitish streaks can be seen under the skin in the lowest part of the spinal cord. Kypholordotic curvature and shortening of the spine." (Source: Ziegler E. Lehrbuch der allgemeinen und speciellen pathologischen anatomie und pathogenese. Jena: G Fischer, 1889.)