13 - Case report: spondylothoracic dysostosis type Jarcho-Levin syndrome with neural tube defect
Abdülhamit Tüten, Emre Dincer, Selahattin Akar, Tülin Gökmen Yıldırım, Güner Karatekin, Hüsnü Fahri Ovalı
Jarcho-Levin syndrome is rare a congenital disorder characterized by numerical and structural costo-vertebral abnormalities. The subtypes of this syndrome are, spondylothoracic and spondylocostal dysostosis. Rib and vertebrae aberrations cause respiratory insufficiency and result in recurrent respiratory infections. Since it is a rare entity, a newborn diagnosed as spondylothoracic dysostosis with meningomyelocele, who had ventriculoperitoneal shunting due to severe hydrocephalus and could not be weaned from respiratory support due to chest deformity, is presented in this case report.
Keywords: Jarcho-Levin Syndrome, neural tube defect, meningomyelocele, spondylocostal dysostosis
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