隐性脊椎肋骨发育不良：两例新病例。
Recessive spondylocostal dysostosis: two new cases.
作者信息
Silengo M C, Cavallaro S, Franceschini P
出版信息
Clin Genet. 1978 Mar;13(3):289-94. doi: 10.1111/j.1399-0004.1978.tb01183.x.
Abstract
Two sisters with spondylocastal dysostosis are presented. Clinical findings are: short neck, short trunk, decreased upper to lower segment ratio, vertebral and costal malformations and normal intelligence. Both the clinical aspects and the family history are suggestive of the autosomal recessive form of the disease.
摘要
本文报告了两例患有脊椎肋骨发育不良的姐妹。临床发现包括：颈部短、躯干短、上下身比例降低、脊椎和肋骨畸形以及智力正常。临床症状和家族史均提示该病为常染色体隐性遗传形式。
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引用本文的文献
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Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.DLL3是一种编码Notch信号通路配体的体节发生基因，该基因中的新突变在脊椎肋骨发育不良中导致了一致的异常椎体节段模式。
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2
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.一种常染色体隐性脊柱肋骨发育不良的基因定位于19q13.1 - q13.3。
Am J Hum Genet. 1999 Jul;65(1):175-82. doi: 10.1086/302464.
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Congenital spinal deformity in a three generation family.
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