Meningomiyelosel ve hidrosefali ile birliktelik gösteren Jarcho-Levin sendromlu iki olgu sunumu

Author:

Ece Ümit,Yapıcıoğlu Hacer,Kavuncu İkram,Bilen Yurdakul Gülseren,Yıldırım Pelin,Celiloğlu Özgü

Publisher

Cukurova Medical Journal

Subject

General Medicine

Reference1 articles.

1. 1. Jarcho S, Levin PM. Hereditary malformation of the vertebral bodies. Johns Hopkins Hosp. 1938;62:216-26. 2. Güzoğlu N, Dilli D, Oğuz SŞ, Kızılelma A, Erdeve Ö, Ceylaner S ve ark. Nöral tüp defektinin eşlik ettiği spondilotorakal tip Jarcho-Levın Sendromu: Bir olgu sunumu. Ankara Üniversitesi Tıp Fakültesi Mecmuası. 2010;63:65-7. 3. Aydın H, Çifçi E, Hekimoğlu B. Jarcho-Levın Sendromu: Spondilokostal Displazili yenidoğanda direkt grafi bulguları. Yeni Tıp Dergisi. 2008;25:245-7. 4. Miscellaneous syndromes. In: Smith’s Recognizable Patterns of Human Malformation. 7th ed (Eds KL Jones, MC Jones, M Casanelles): Philadelphia, Elsevier Saunders. 2013;782-3. 5. Kulkarni ML, Navaz S, Vani HN, Manjunath KS, Matani D. Jarcho Levin Syndrome. Indian J Pediatr. 2006;73:245-7. 6. Gedikbasi A, Yıldırım G, Bingol B, İsmayilzade R, Celikkol O, Ceylan Y. Nöral tüp defekti ve iniensefali ile komplike olmuş Jarcho –Levin Sendromu. JOPP Derg. 2010;2:89-92. 7. Gucev ZS, Tasic V, Pop-Jordanova N, Sparrow DB, Dunwoodie SL, Ellard S et al. Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: negative mutation analysis of DLL3, MESP2, HES7 and LFNG. Am J Med Genet. 2010;152:1378-82. 8. Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N et al. Mutations in the MESP2 Gene Cause Spondylothoracic Dysostosis/ Jarcho-Levin Syndrome, Am J Hum Genet. 2008;82:1334–41. 9. Dane B, Dane C, Aksoy F, Cetin A, Yayla M. Jarcho-Levin syndrome presenting as neural tube defect: report of four cases and pitfalls of diagnosis. Fetal Diagn Ther. 2007;22:416-9. 10. Mortier GR, Lachman RS, Bocian M, Rimoin DL. Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. Am J Med Genet. 1996;61:310-9. 11. Akın MA, Güneş T, Baykan A, Çoban D, Sezer S, Vatankulu F. Aynı olguda iki nadir hastalık: Jarcho-Levin Sendromuve komplex kardiyak patoloji. Turkish J Pediatr Dis. 2010;4:104-8. 12. Odacı E, Yıldıran A, Küçüködük Ş, Çiftçi N. Abnormalities may be related defective somitogenesis: multiple vertebral segmentation defects and neural tube defects. O.M.Ü. Tıp Dergisi. 2001;18:216-24. 13. Chen CP. Syndromes, Disorders and Maternal Risk Factors Associated With Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (II). Taiwan J Obstet Gynecol. 2008;47:10-7. 14. Naik PR, Lendon RG, Barson AJ. A radiological study of vertebral and rib malformations in children with myelomeningocele. Clin Radiol. 1978;29:427-30

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