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伴有II型脊髓纵裂畸形的脊椎肋骨发育不良:1例罕见病例报告及文献简要回顾

Spondylocostal dysostosis with type II split cord malformation: A report of a rare case and brief review of the literature.

作者信息

Abera Michael Teklehaimanot, Ketema Amanuel Aboye, Abdela Abubeker Fedlu, Tefera Tesfaye Gizaw

机构信息

Addis Ababa University, College of Health Sciences, Department of Radiology, Addis Ababa, Ethiopia.

出版信息

Radiol Case Rep. 2024 May 22;19(8):3339-3344. doi: 10.1016/j.radcr.2024.04.095. eCollection 2024 Aug.

Abstract

Spondylocostal dysostosis (Jarcho Levin syndrome) is a rare costovertebral malformation syndrome that will result in restrictive pulmonary physiology. It manifests its major components at birth. Split cord malformation, together with spondylocostal dysostosis, is even rarer. We hereby report our experience with diagnosing 1 infant with spondylocostal dysostosis and type II split cord malformation using computed tomography and magnetic resonance imaging. We also present a concise summary of previously published case reports and case series involving patients with concurrent spondylocostal dysostosis and split cord malformations.

摘要

脊椎肋骨发育不全(雅尔乔-莱文综合征)是一种罕见的肋椎骨畸形综合征,会导致限制性肺生理功能。它在出生时就表现出主要症状。脊髓纵裂畸形与脊椎肋骨发育不全一起更为罕见。我们在此报告使用计算机断层扫描和磁共振成像诊断1例患有脊椎肋骨发育不全和II型脊髓纵裂畸形婴儿的经验。我们还简要总结了先前发表的涉及同时患有脊椎肋骨发育不全和脊髓纵裂畸形患者的病例报告和病例系列。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e65/11163143/da2f2dedf8bf/gr1.jpg

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