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脊椎肋骨发育不良与神经管缺陷。

Spondylocostal dysplasia and neural tube defects.

作者信息

Giacoia G P, Say B

机构信息

Department of Pediatrics, University of Oklahoma College of Medicine, Tulsa 74136.

出版信息

J Med Genet. 1991 Jan;28(1):51-3. doi: 10.1136/jmg.28.1.51.

Abstract

Spondylocostal dysplasia (Jarcho-Levin syndrome) comprises multiple malformations of the vertebrae and ribs coupled with a characteristic clinical picture of short neck, scoliosis, short trunk, and deformity of the rib cage. We describe a patient with the syndrome who also had spina bifida and diastematomyelia. We surmise that this association is not coincidental. Additional evidence is needed to support the hypothesis that spondylocostal dysplasia and neural tube defects are aetiologically related.

摘要

脊椎肋骨发育不良(雅尔乔-莱文综合征)包括脊椎和肋骨的多种畸形,并伴有短颈、脊柱侧弯、躯干短小和胸廓畸形的特征性临床表现。我们描述了一名患有该综合征且还患有脊柱裂和脊髓纵裂的患者。我们推测这种关联并非偶然。需要更多证据来支持脊椎肋骨发育不良与神经管缺陷在病因学上相关的假说。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/752a/1016749/06ca7aabfcf8/jmedgene00027-0053-a.jpg

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