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Colegio de Medicos y Cirujanos República de Costa Rica

2015, Number 616

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Rev Med Cos Cen 2015; 72 (616)

Disostosis espondilocostal: el síndrome de Jarcho-Levin

Torres FJ, García PM, Soria SCR

Language: Spanish
References: 31
Page: 653-658
PDF size: 261.17 Kb.


ABSTRACT

Spondylocostal dysostosis is a genetic disorder characterized by vertebral segmentation defects and misaligned ribs. Currently, there are five genes identified, causing spondylocostal dysostosis, which are related to NOTCHsignaling pathway. Often, different names are used to indicate this genetic anomaly. Diagnosis is made by physical examination and radiographic images of the spine and ribs. Half of patients die within the first year of life, while others will require vigilance against future respiratory complications.


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