Department of Radiology, Columbia University College of Physicians and Surgeons, Morgan Stanley Children's Hospital of New York-Presbyterian, New York, NY, USA.
Pediatr Radiol. 2011 Mar;41(3):384-8. doi: 10.1007/s00247-010-1928-8. Epub 2010 Dec 22.
In 1938, Saul Jarcho and Paul Levin from Johns Hopkins Hospital reported cases of thoracic insufficiency due to vertebral and rib anomalies. Nearly 30 years later, in 1966, Norman Lavy and associates from Indiana University reported a similar syndrome in a family from Puerto Rico. Lavy's description was followed by a report by John E. Moseley from New York City, where the name spondylothoracic dysplasia (dysostosis) was first used. For more than half a century, there has been confusion regarding the distinction between these two phenotypically similar syndromes that cause thoracic insufficiency. Spondylocostal dysostosis (SCD), or Jarcho-Levin syndrome, causes mild to moderate respiratory insufficiency, is panethnic and has been linked to genes such as DLL3, which is known to be associated with the Notch pathway. In contrast, spondylothoracic dysostosis (STD), or Lavy-Moseley syndrome, results in more severe respiratory compromise, is largely linked to Puerto Rican cohorts and is thought to be associated to the MESP2 gene, also a Notch pathway gene. Long-term studies of Puerto Rican cohorts with STD contradicts the previously held belief that individuals affected with STD have markedly diminished life expectancy with as many as 25% surviving into later childhood and adult life.
1938 年，约翰霍普金斯医院的 Saul Jarcho 和 Paul Levin 报道了因椎体和肋骨异常导致的胸廓发育不全病例。将近 30 年后，即 1966 年，印第安纳大学的 Norman Lavy 及其同事报道了来自波多黎各的一个家族中存在类似的综合征。在 Lavy 的描述之后，来自纽约市的 John E. Moseley 报告了一例病例，首次使用了脊柱胸段发育不良（发育不良）这一名称。在半个多世纪的时间里，对于导致胸廓发育不全的这两种表型相似的综合征之间的区别一直存在混淆。脊柱肋发育不良（SCD）或 Jarcho-Levin 综合征引起轻度至中度呼吸功能不全，为泛种族疾病，与 DLL3 等基因有关，已知 DLL3 与 Notch 途径有关。相比之下，脊柱胸段发育不良（STD）或 Lavy-Moseley 综合征导致更严重的呼吸功能障碍，主要与波多黎各人群相关，被认为与 MESP2 基因有关，该基因也是 Notch 途径基因。对 STD 患者的波多黎各人群进行的长期研究反驳了先前的观点，即患有 STD 的个体的预期寿命明显缩短，多达 25%的患者能存活至儿童后期和成年期。
