Jarcho-levin sendromu: Spondilokostal displazili yenidoğanda direkt grafi bulguları

Jarcho-Levin sendromu segmental kostovertebral defor-mitelerin bulunduğu sayısal ve yapısal vertebra-kosta anomalilerini içeren congenital bir sendromdur. Spondilo-torasik ve spondilokostal displazi şeklinde iki alt gruptan oluşur. Spondilotorasik displazide vertebra deformiteleri, spondilokostal displazide kosta anomalileri daha sık gözlenir. Kostaların ve vertebraların yaygın deformiteleri, anormal birleşme göstermeleri solunum sıkıntısına ve sık tekrarlayan solunum yolu enfeksiyonlarına neden olmak-tadır. Nadir görüldüğünden dolayı, yenidoğanda spina bifida okkulta ve yaygın kostal agenezi içeren bir spondilokos-tal displazi olgusu sunulmuştur.

Jarcho-Levin syndrome is a congenital disorder, including segmental costo-vertebral deformities with multiple numerical and structural vertebral and rib abnormalities. It is composed of two subgroups:Spondylothorasic and spondylocostal displasia. In spondylothorasic displasia vertebral deformities in spondylocostal displasia rib deformities are major abnormalities. Diffuse abnormalities of ribs and vertebrae, abnormally fused affected vertebrae and ribs cause respiratory insufficiency and result to recurrent respiratory infections. Since it is a rare entity, a newborn diagnosed as spondylocostal displasia with spina bifida occulta and diffuse costal agenesia is presented.

Kaynakça

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