Apert syndrome
Journal Title: Journal of Medical and Scientific Research - Year 2015, Vol 3, Issue 2
Abstract
Craniosynostosis is due to premature closure of the cranial sutures. The radiological findings of a 3-year-old girl with a small head, triangular frontal shape, hypertelorism, delayed milestones and syndactyly are presented. A provisional diagnosis of Apert syndrome was made and radiological investigations were performed. Radiographs of both hands and feet showed soft tissue fusion of all digits and synostosis involving the phalanges of both hands and second and third metacarpals of both feet. Radiograph of the skull showed craniosynostosis with turribrachycephaly. Three-dimensional computed tomography (CT) revealed a sagittal, coronal and metopic suture synostosis with exaggerated convolutional markings. MRI of the brain demonstrated agenesis of corpus callosum. Diffusion tensor MRI and fiber tractography (FT) were performed which showed white matter fiber orientation and neuroanatomic configuration of aberrant hemispheric fiber connections.
Authors and Affiliations
Begum A, Ram AG, Rajinikanth RV
Keywords
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- EP ID EP606747
- DOI 10.17727/JMSR.2015/3-013
- Views 125
- Downloads 0
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