Case Report
2015 April
Volume : 3 Issue : 2


Apert syndrome

Begum Azra, Sandeep, Ananta Ram Gudipati, Rajinikanth Rao V

Pdf Page Numbers :- 70-74

 Dr. Begum Azra1,*, Dr. Sandeep1, Dr. Ananta Ram Gudipati1 and Dr. Rajinikanth Rao V1

 

1Radiology and Imageology, Krishna Institute of Medical Sciences, Minister Road, Secunderabad-500003, Telangana, India

 

*Corresponding author: Dr. Azra Begum, Radiology and Imageology, Krishna Institute of Medical Sciences, Minister Road, Secunderabad-500003, Telangana, India.

 

Received 10 January 2015; Revised 9 March 2015; Accepted 18 March 2015; Published 25 March 2015

 

Citation: Begum A, Sandeep, Ananta Ram G, Rajinikanth Rao V. Apert syndrome. J Med Sci Res. 2015; 3(2):70-74. DOI: http://dx.doi.org/10.17727/JMSR.2015/3-013  

 

Copyright: © 2015 Begum A, et al. Published by KIMS Foundation and Research Center. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 

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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.

Keywords: Apert syndrome; syndactyly; craniosynostosis

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