骨质石化症与Ⅰ型Chiari畸形：一种罕见的关联。
Osteopetrosis and Chiari type I malformation: a rare association.
作者信息
Ekici Mehmet Ali, Cıkla Ulaş, Bauer Andrew, Başkaya Mustafa K
机构信息
Department of Neurological Surgery, School of Medicine and Public Health, University of Wisconsin, Madison, WI 53792, USA.
Department of Neurological Surgery, School of Medicine and Public Health, University of Wisconsin, Madison, WI 53792, USA
出版信息
J Surg Case Rep. 2015 Oct 26;2015(10):rjv084. doi: 10.1093/jscr/rjv084.
Osteopetrosis (OP) is hereditary X-linked, autosomal recessive (ARO), or autosomal dominant (ADO) skeletal disease. ARO has two subtypes, which are infantile malignant and intermediate type. ARO and X-linked OP have poor clinical outcome. ADO is called adult benign type because of the normal life expectancy, which has type I and type II. Here, the authors present an ADO patient with Chiari type I. Concomitant ADO with Chiari type I malformation is an extremely rare condition. Literature research yielded only one case report to date.
骨质石化症（OP）是一种遗传性X连锁、常染色体隐性（ARO）或常染色体显性（ADO）骨骼疾病。ARO有两种亚型，即婴儿恶性型和中间型。ARO和X连锁OP的临床预后较差。ADO由于预期寿命正常而被称为成人良性型，它有I型和II型。在此，作者报告了一例患有I型Chiari畸形的ADO患者。ADO合并I型Chiari畸形是一种极其罕见的情况。迄今为止，文献研究仅产生了一例病例报告。
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