Objective: To characterize the clinical presentation and clinical course of shaken baby syndrome (SBS) with normal cranial computerized tomography (CT) on admission and to suggest further diagnostic procedures in such circumstances.
Methods: Using a worldwide listserv designed to facilitate discussion in the field of child abuse and neglect, we solicited case information for children hospitalized in different medical centers, who were diagnosed with SBS and had a normal CT scan on admission.
Results: Nine cases were identified.
We isolated and characterized numerous engrailed and invected alleles. Among the deficiencies we isolated, a mutant lacking invected sequences was viable and phenotypically normal, a mutant lacking engrailed was an embryo lethal and had slight segmentation defects, and a mutant lacking both engrailed and invected was most severely affected. In seven engrailed alleles, mutations caused translation to terminate prematurely in the central or C-terminal portion of the coding sequence, resulting in embryonic lethality and segmentation defects.
View Article and Find Full Text PDFAnterior/posterior compartment borders bisect every Drosophila imaginal disc, and the engrailed gene is essential for their function. We analyzed the role of the engrailed and invected genes in wing discs by eliminating or increasing their activity. Removing engrailed/invected from posterior wing cells created two new compartments: an anterior compartment consisting of mutant cells and a posterior compartment that grew from neighboring cells.
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