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Neural Tube Defect Spectrum - Study of Craniorachischisis

Authors: Rashmi Deopujari; Ashutosh Mangalgiri; Asha Dixit; G.S. Longia;

Neural Tube Defect Spectrum - Study of Craniorachischisis

Abstract

{"references": ["1. Baker PN: Prenatal Diagnosis. In: Obstetrics by 10 teachers, 18th Edn.; Book Power publishers. Hodder Arnold. London. 2006; pp 107-108.", "2. Becker R, Mende B, Stiemer B, Entezami M: Sonographic markers of exencephaly at 9 + 3 weeks' gestation. Ultrasound in Obstetrics and Gynecology. 2000; 16(6): 582\u2013584.", "3. Botto LD, Moore CA, Khoury MJ, Erickson JD: Neuraltube defects. New England Journal of Medicine. 1999; 341: 1509\u20131519", "4. Bronshtein M, Ornoy A: Acrania- Anencephaly resulting from secondary degeneration of a closed neural tube: Two cases in the same family. Journal of Clinical Ultrasound, 1991; 19(4): 230\u2013234", "5. Chaurasia BD: Calvrial defect in human anencephaly. Teratology. 1984; 29(2):165-172.", "6. Coskun A, Kiran G. Ozdemir O: Craniorachischisis totalis: A case report and review of literature. Fetal diagnosis and therapy, 2009; 25 (1):21-25.", "7. Crowley LV: The Nervous system. In: Pathological Basis of the disease (Introduction to Humans Disease). 4th Edn.; Jones and Bartlett publishers Inc. USA. Boston, 1999; pp 753-800.", "8. Cunningham FG, Leveno KJ, Bloom SL, Hauth JC, Gilstrap L, Wenstrom KD: Genetics. In: Williams's obstetrics. 22nd Edn.; Mc Graw-Hill, New York, 2005; pp 285-312.", "9. DetraitER, George TM, Etchevers HC, Gilbert JR, Vekemans M, Speer MC: Human Neural Tube Defects: Developmental biology, epidemiology and genetics. Neurotoxicology & Teratology, 2005; 27(3): 515\u2013524", "10. Frosch MP, Anthony DC, Girolami UD: The Central Nervous System. In: Robbins and Cotran, Pathological basis of disease. Eds. V Kumar, A k Abbas, N Fausto. 7th Edn.; W.B. Saunders Elsevier, Philadelphia. 2004; pp 1353-1354", "11. Johnson KM, Suarez L, Felkner MM, Hendricks K: Prevalence of craniorachischisis in a Texas-Mexico border population. Birth defects Research, Part A: Clinical and Molecular Teratology, 2004; 70(2): 92-94", "12. Jones KL: Smith's recognizable patterns of human malformation. 6th Edn.; Saunders Elsevier, Philadelphia. 2006; pp 704", "13. Kapron C: Identification of the mouse Loop-tail gene: a model for human craniorachischisis. BioEssays, 2002; 24(7): 580\u2013583", "14. Kjaer I, Keeling JW, Graem N: Cranial base and vertebral column in human anencephalic fetuses. Journal of Craniofacial Genetics & Developmental Biology, 1994;14(4): 235-244.", "15. Kulkarni ML, Mathew MA, Reddy V: The range of neural tube defects in Southern India. Archives of disease in childhood, 1989; 64(2): 201-204.", "16. Moore CA. Classification of Neural tube defects. In: Neural tube defects from origin to treatment. Diego F. Wyszynski (Eds.), Oxford University Press, New York, 2006; pp 66.", "17. Moore KL, Persaud TVN: The developing human. Clinically Oriented Embryology, 7th Edn.; Saunders Elsevier Philadelphia, 2003; pp 428.", "18. Powers JM, Horoupian DS: Central nervous system. In: Anderson's Pathology. Damjanov & J Linder. Vol. 2, (Eds.), 10th Edn.; Mosby-Year Book.Inc. St. Louis, Missouri. 1996; pp 2693-2798", "19. Timor-Tritsch HE, Greenebaum E, Monteagudo A, Baxi L: Exencephaly-anencephaly sequence: proof by ultrasound imaging and amniotic fluid cytology. Journal of Maternal-Fetal and Neonatal Medicine, 1996; 5(4):182\u2013185", "20. Van Allen MI, Kalousek DK, Chernoff GF, Juriloff D, Harris M, McGillivray BC, Yong SL, Langlois S, MacLeod PM, Chitayat D, Friedman JM, Wilson RD, McFadden D, Pantzar J, Ritchie S, Hall JG: Evidence for multi-site closure of the neural tube in humans: American Journal of Medical Genetics, 1993; 47(5):723-743.", "21. Wilkins-Haug L, Freedman W: Progression of exencephaly to anencephaly in the human fetus: an ultrasound perspective. Prenatal Diagnosis. 1991; 11(4): 227\u2013233."]}

Neural tube defect spectrum (NTD) includes anencephaly, spina bifida, craniorachischisis, inencephaly etc. Four cases of craniorachischisis were studied from a collection of 34 aborted fetuses. There was deficiency of scalp and cranial vault in all the four cases. In one case the defect was extending up to the cervical region, in rest of the three cases, vertebral column defect extended upto thoracic region exposing the spinal cord and spinal nerves. All the cases presented with bulging eyes, broad nose, folded ears, protruded tongue and absent neck. These defects result due to failure of closure of the neural tube during early embryonic life.

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Keywords

Anencephaly, craniorachischisis, neural tube defect, rachischisis

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