Chiari type I malformation caused by craniometaphyseal Dysplasia

Masato Tanaka, Shinya Arataki, Yoshihisa Sugimoto, Tomoyuki Takigawa, Tomoko Tetsunaga, Toshifumi Ozaki

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Craniometaphyseal dysplasia is a rare genetic condition characterized by progressive thickening of bones in the skull and metaphyseal abnormalities in the long bones. This disorder often causes progressively symptomatic cranial nerve compression, but in rare cases foramen magnum stenosis may lead to quadriplegia. Chiari I malformation with craniometaphyseal dysplasia is extremely rare. The authors report on a 25-year-old woman with myelopathy due to Chiari I malformation along with craniometaphyseal dysplasia. There are only four previous case reports of this condition. The authors present here the fifth case report of this rare condition and summarize its characteristics.

Original languageEnglish
Pages (from-to)385-390
Number of pages6
JournalActa medica Okayama
Volume67
Issue number6
Publication statusPublished - Dec 1 2013

Keywords

  • Cervicomedullary compression
  • Chiari malformation
  • Craniometaphyseal dysplasia

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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