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Cleidocranial dysplasia and syringomyelia. Case report.

作者信息

Vari R, Puca A, Meglio M

机构信息

Institute of Neurosurgery, Università Cattolica, Rome, Italy.

出版信息

J Neurosurg Sci. 1996 Jun;40(2):125-8.

PMID:9049895
Abstract

cleidocranial dysplasia (CCD) is a dysmorphic syndrome characterized by delayed ossification of the cranial sutures, clavicular hypoplasia and dental dysplasia. We recently observed a 24-year old male patient with CCD and associated syringomyelia and Chiari I malformation (CMI). Only three cases with such an association had been described. The role of posterior fossa bone dysplasia in the pathogenesis of CMI and syringomyelia is discussed.

摘要

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Cleidocranial dysplasia and syringomyelia. Case report.
J Neurosurg Sci. 1996 Jun;40(2):125-8.
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引用本文的文献

1
Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics.综述文章:伴或不伴脊髓空洞症的Chiari I型畸形:患病率与遗传学
J Genet Couns. 2003 Aug;12(4):297-311. doi: 10.1023/A:1023948921381.
2
Cleidocranial dysplasia: a rare cause of disproportionate severe short stature.锁骨颅骨发育不全:一种导致身材严重不成比例矮小的罕见病因。
Oman Med J. 2012 Sep;27(5):408-10. doi: 10.5001/omj.2012.99.
3
Cleidocranial dysplasia: a case report.锁骨颅骨发育不全:一例报告。
J Clin Res Pediatr Endocrinol. 2010;2(3):134-6. doi: 10.4274/jcrpe.v2i3.134. Epub 2010 Aug 9.