Abstract
In 1938, Jarcho and Levin (1938) first described a syndrome of malformations with abnormal fusion of thoracic vertebrae and ribs associated with a short trunk and respiratory insufficiency. At present, Jarcho-Levin syndrome is an eponym used to describe a variety of clinical phenotypes, consisting of short-trunk dwarfism associated with rib and vertebral anomalies. Two phenotypic subtypes of spondylothoracic dysostosis and spondylocostal dysostosis have recently been proposed.
References
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Chen, H. (2017). Jarcho-Levin Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_136
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DOI: https://doi.org/10.1007/978-1-4939-2401-1_136
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