Papilledema from craniosynostosis in pycnodysostosis.
作者信息
Kyung Sung-eun E, Horton Jonathan C
机构信息
Department of Ophthalmology, School of Medicine, University of Dankook at Cheonan, South Korea.
Department of Ophthalmology, University of California, San Francisco, San Francisco, California; Department of Neurology, University of California, San Francisco, San Francisco, California; Department of Physiology, University of California, San Francisco, San Francisco, California.
出版信息
Pediatr Neurol. 2015 Jan;52(1):128-9. doi: 10.1016/j.pediatrneurol.2014.09.021. Epub 2014 Oct 5.
Abstract
摘要
相似文献
1
Papilledema from craniosynostosis in pycnodysostosis.
Pediatr Neurol. 2015 Jan;52(1):128-9. doi: 10.1016/j.pediatrneurol.2014.09.021. Epub 2014 Oct 5.
2
Multisuture Craniosynostosis and Papilledema in Pycnodysostosis: A Paradox?
J Craniofac Surg. 2019 Jan;30(1):110-114. doi: 10.1097/SCS.0000000000004870.
3
Bilateral optic disc edema in a case of pycnodysostosis.
J Fr Ophtalmol. 2020 Oct;43(8):e279-e282. doi: 10.1016/j.jfo.2019.11.022. Epub 2020 Jul 1.
4
Insidious craniosynostosis and chronic papilledema in childhood.
Am J Ophthalmol. 1996 Dec;122(6):910-1. doi: 10.1016/s0002-9394(14)70401-5.
5
A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis.
BMJ Case Rep. 2012 Nov 21;2012:bcr2012006930. doi: 10.1136/bcr-2012-006930.
6
Optical coherence tomography: a quantitative tool to screen for papilledema in craniosynostosis.
Childs Nerv Syst. 2014 Jun;30(6):1067-73. doi: 10.1007/s00381-014-2376-9. Epub 2014 Feb 12.
7
Craniosynostosis: A rare complication of pycnodysostosis.
Eur J Med Genet. 2010 Mar-Apr;53(2):89-92. doi: 10.1016/j.ejmg.2009.12.001. Epub 2010 Jan 5.
8
Delayed-onset craniosynostosis.
Pediatr Neurosurg. 2007;43(1):76. doi: 10.1159/000097534.
9
Left clavicular fracture. Pyknodysostosis.
Skeletal Radiol. 2016 Jun;45(6):821-3, 851-2. doi: 10.1007/s00256-015-2318-y.
10
The effectiveness of papilledema as an indicator of raised intracranial pressure in children with craniosynostosis.
Neurosurgery. 1996 Feb;38(2):272-8. doi: 10.1097/00006123-199602000-00009.
引用本文的文献
1
Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.
Genes (Basel). 2021 Sep 29;12(10):1552. doi: 10.3390/genes12101552.
2
Cathepsin K Inhibitors for Osteoporosis: Biology, Potential Clinical Utility, and Lessons Learned.
Endocr Rev. 2017 Aug 1;38(4):325-350. doi: 10.1210/er.2015-1114.
本文引用的文献
1
Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.
Orphanet J Rare Dis. 2011 May 10;6:20. doi: 10.1186/1750-1172-6-20.
2
Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities.
Am J Med Genet A. 2010 Oct;152A(10):2599-603. doi: 10.1002/ajmg.a.33609.
3
Craniosynostosis: A rare complication of pycnodysostosis.
Eur J Med Genet. 2010 Mar-Apr;53(2):89-92. doi: 10.1016/j.ejmg.2009.12.001. Epub 2010 Jan 5.
4
Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.
Science. 1996 Aug 30;273(5279):1236-8. doi: 10.1126/science.273.5279.1236.
Zotero 插件