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The following terms were not found in PubMed: ichthyosis-intellectual, disability-spastic
Page 1
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
Clin Genet. 2022 May;101(5-6):530-540. doi: 10.1111/cge.14132. Epub 2022 Apr 12.
Clin Genet. 2022.
PMID: 35322404
Free PMC article.
El-Hattab-Alkuraya syndrome is associated with a consistent phenotype characterized by early onset cerebral atrophy resulting in microcephaly, developmental delay, spastic quadriplegia, and seizures. ...A brain imaging pattern emerges which is consistent among indiv …
El-Hattab-Alkuraya syndrome is associated with a consistent phenotype characterized by early onset cerebral atrophy resulting in micr …
Atlanto-occipital dislocation--part 2: The clinical use of (occipital) condyle-C1 interval, comparison with other diagnostic methods, and the manifestation, management, and outcome of atlanto-occipital dislocation in children.
Pang D, Nemzek WR, Zovickian J.
Pang D, et al.
Neurosurgery. 2007 Nov;61(5):995-1015; discussion 1015. doi: 10.1227/01.neu.0000303196.87672.78.
Neurosurgery. 2007.
PMID: 18091277
METHOD: For diagnostic sensitivity, we applied the CCI criterion on 16 patients who fulfilled one or more accepted radiodiagnostic criteria of AOD and who showed clinical and imaging hallmarks of the syndrome. All 16 patients had plain cervical spine x-rays, head CT scans, …
METHOD: For diagnostic sensitivity, we applied the CCI criterion on 16 patients who fulfilled one or more accepted radiodiagnostic criteria …
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