施瓦茨-扬佩尔综合征的颅颈CT和磁共振成像
Craniocervical CT and MR imaging of Schwartz-Jampel syndrome.
作者信息
Samimi Sarah S, Lesley Walter S
机构信息
Saint Louis University School of Medicine, Cardinal Glennon Children's Hospital, St. Louis, MO, USA.
出版信息
AJNR Am J Neuroradiol. 2003 Sep;24(8):1694-6.
Abstract
Schwartz-Jampel syndrome is a rare, inherited disorder characterized by myotonia, skeletal deformities, facial dysmorphism, and growth retardation. In this report of an adolescent male patient with Schwartz-Jampel syndrome, CT and MR imaging revealed basilar invagination, platybasia, Chiari I malformation, hyperpneumatized mastoids with intramastoid dural sinuses, platyspondyly, bulbous zygoma, and blunted pterygoid processes.
摘要
施瓦茨-扬佩尔综合征是一种罕见的遗传性疾病，其特征为肌强直、骨骼畸形、面部畸形和生长发育迟缓。在这份关于一名患有施瓦茨-扬佩尔综合征的青少年男性患者的报告中，CT和磁共振成像显示有颅底陷入、扁平颅底、Chiari I畸形、乳突过度气化伴乳突内硬脑膜窦、椎体扁平、球状颧骨和翼突钝圆。
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