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Κυριακή 20 Μαΐου 2018

Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1

Publication date: September–October 2018
Source:Clinical Imaging, Volume 51
Author(s): Allison Tam, Joseph M. Sliepka, Sunil Bellur, Collin Douglas Bray, Christie M. Lincoln, Sandesh C.S. Nagamani
Whereas isolated sphenoid wing dysplasia (SWD) is a well-known clinical feature in neurofibromatosis 1 (NF1), extensive cranial defects involving multiple bones have been rarely reported in this disorder. In this report, we describe the clinical course of a 20-year-old male with NF1 and an extensive cranial bone dysplasia. The large sphenoethmoidal defect was associated with transethmoidal and orbital cephalocele as well as inferolateral herniation of the frontal lobe. In spite of the large defect, the individual did not have any symptoms or complications resulting from the osteopathy. We review the current knowledge of the pathogenesis and management of cranial bone dysplasia in NF1.



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