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- Serap Satis, Mustafa Tuna, Nur Alparslan, and Osman Dere.
- Department of Physical Medicine and Rehabilitation, Harran University, Faculty of Medicine, Sanliurfa, Turkey. Electronic address: mdseraps@gmail.com.
- World Neurosurg. 2019 Dec 1; 132: 236-238.
BackgroundJarcho-Levin syndrome (JLS) is a rare congenital disorder characterized by different clinical and radiologic findings. The disease was first reported by Jarcho and Levin in 1938, and it was described as the presence of various malformations or abnormal fusion in the thoracic vertebrae and ribs, short trunk, and respiratory distress.Case DescriptionIn our case, fusion at the thoracic and cervical vertebrae, butterfly vertebrae, and a crablike-shaped thorax was present. The patient had a short trunk, short stature, and long extremities. Moreover, he had a syndromic face and restrictive-type respiratory distress. There was a glomus tumor in the carotid space. In our literature review, we found that neural tube defects are frequently present in this syndrome. However, we could not identify any cases with affected neural crest cells.ConclusionsJLS may affect cells derived from the neural crest located between the neural tube and surface ectoderm. Therefore patients with JLS should be screened for other tumors located in this area.Copyright © 2019 Elsevier Inc. All rights reserved.
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