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Iniencephaly: A case report

Year 2003, Volume: 34 Issue: 3, 37 - 40, 01.04.2003

Nihan Uygur Feyza Yıldız Feray Güven Leyla Karadeniz Ümit Akyüz Aksu Say

Abstract

İniencephaly is a rare but almost always lethal neural tube defect with following cardinal features: Occipithal bone defect, partial or total absence of cérvicothoracal vertebrae and fetal retroflexion.There is a defect in closure of the neural tube, which, under normal circumstances, is completely fused by 28 days of gestation. Iniencephaly is associated with malformations of central nervous system, gastrointesinal - and cardiovasküler system. We present an iniencephalic newborn with a review of literature.

Keywords

Case report Neural Tube Defects Infant Newborn Diseases Abnormalities Multiple Fatal Outcome

References

  • 1. Moore KL: The Developing Human Clinically Oriented Embryology. Third edition., Philedelphia.WB Saunders, 1982;375-412
  • 2. Doğan MM, Ekici E, Yapar EG, et all. İniencephaly:sonographic- pathologic correlation of 19 cases. J Perinatal Med 1996;24:501-511
  • 3. Aquila A, Nazer J, Bentjerodt R.Prevention of neural tube closure defects, a propose of a case of iniencephaly.rev Chilena Obstet Gynecol 1994;58:53-6
  • 4. Haider P, Jafarey S. A rare neural tube defect:a report of eight cases in Pakistan.Asia- Ocenia J Obstet Gynecol 1991;17:241-6
  • 5. Kulaylat NA, Narchi H. Iniencephaly:An uncommon neural tube defect. J Pediatr 2000;36:414
  • 6. Paterson SJ. İniencephalus. J Obstet Gynecol Br Emp 1944;51:330-33
  • 7. Rodriguez MM, Reik RA, Carreno TD, et all. Clusters of iniencephaly in Miami. Pediatr Pathol 1991;11:211-221
  • 8. David TJ, Nixon A:Congenital malformations assosiated with anencephaly and iniencephalyJ Med Genet 13:263-265.1976
  • 9. Romero R, Pilu G, Jeanty P, et all: Prenatal Diagnosis of Congenital Anomalies.Norwalk, Conn:Appleton and Lange, 1988, pp 65-67
  • 10. Sherk HH,Shut L, Chung S:İniencephalic deformity of the cervical spine with Klippel- Feil anomalies and congenital elevation of the scapula. Report of three cases. J Bone Joint Surg (Am)56:1254-1259,1974
  • 11. Katz VL, Aylsworth AS, Albright SG:Iniencephaly is not uniformly fatal.Prenat Diag 9:595-599.1989
  • 12. Munden MM, Macpherson RI, Cure J:3-D computed tomography imaging. Pediatr Radiol 23:572.1993
  • 13. Erdinçler P, Kaynar MY, Canbaz B, et all: iniencephaly: neuroradiological and surgical features. Case report and review of the literature. J Neurosurg 1998;89:317-20. 14. Aleksic S, Budzilovich G, Greco MA, et alLiniencephaly: Neuropathologic study. Clin Neuropathol 2 (1983):55
  • 15. Myriantopulos NC, MelnickM. Studies in neural tube defects.:Epidemiologic and etiologic agents. Am J Med Genet 1987;18:404-405
  • 16. Jones KL. Smith's recognizable patterns of human malformation. Philadelphia: WB Saunders;1997.p:608-9
  • 17. Paterson SJ:Iniencephalus.J Obstet Gynecol BrEmp 51 (1944):330
  • 18. Yang LL. Neural tube defects. in:Gomella TU Cunnnigham MD, Eyal FG.,eds. Neonatology .3r edition .Appleton & Lange. 1998: 396.

İniensefali. Olgu sunumu

Year 2003, Volume: 34 Issue: 3, 37 - 40, 01.04.2003

Nihan Uygur Feyza Yıldız Feray Güven Leyla Karadeniz Ümit Akyüz Aksu Say

Abstract

İniensefali, karakteristik bulguları oksipital kemik defekti, servikotorakal vertebralarm tam veya kısmi yokluğu, fetal retrofleksiyon olan, nadir rastlanan genelde ölümcül olan bir nöral tüp defektidir. Gestasyonun 28. gününde tamamen kapanması gereken nöral tüpteki kapanma kusuru sonucu oluşur. İniensefali'ye sıklıkla merkezi sinir sistemi, gastrointestinal, kardiyovasküler sistem anomalileri eşlik edebilir.İnsidansı 1/850-1/40000 canlı doğum olan iniensefalik bir yenidoğanı literatür bilgileri eşliğinde sunduk.

Keywords

Olgu sunumu Nöral tüp defektleri Süt çocuğu yenidoğan hastalıklar Anomaliler çoklu Ölümle sonuçlanma

References

  • 1. Moore KL: The Developing Human Clinically Oriented Embryology. Third edition., Philedelphia.WB Saunders, 1982;375-412
  • 2. Doğan MM, Ekici E, Yapar EG, et all. İniencephaly:sonographic- pathologic correlation of 19 cases. J Perinatal Med 1996;24:501-511
  • 3. Aquila A, Nazer J, Bentjerodt R.Prevention of neural tube closure defects, a propose of a case of iniencephaly.rev Chilena Obstet Gynecol 1994;58:53-6
  • 4. Haider P, Jafarey S. A rare neural tube defect:a report of eight cases in Pakistan.Asia- Ocenia J Obstet Gynecol 1991;17:241-6
  • 5. Kulaylat NA, Narchi H. Iniencephaly:An uncommon neural tube defect. J Pediatr 2000;36:414
  • 6. Paterson SJ. İniencephalus. J Obstet Gynecol Br Emp 1944;51:330-33
  • 7. Rodriguez MM, Reik RA, Carreno TD, et all. Clusters of iniencephaly in Miami. Pediatr Pathol 1991;11:211-221
  • 8. David TJ, Nixon A:Congenital malformations assosiated with anencephaly and iniencephalyJ Med Genet 13:263-265.1976
  • 9. Romero R, Pilu G, Jeanty P, et all: Prenatal Diagnosis of Congenital Anomalies.Norwalk, Conn:Appleton and Lange, 1988, pp 65-67
  • 10. Sherk HH,Shut L, Chung S:İniencephalic deformity of the cervical spine with Klippel- Feil anomalies and congenital elevation of the scapula. Report of three cases. J Bone Joint Surg (Am)56:1254-1259,1974
  • 11. Katz VL, Aylsworth AS, Albright SG:Iniencephaly is not uniformly fatal.Prenat Diag 9:595-599.1989
  • 12. Munden MM, Macpherson RI, Cure J:3-D computed tomography imaging. Pediatr Radiol 23:572.1993
  • 13. Erdinçler P, Kaynar MY, Canbaz B, et all: iniencephaly: neuroradiological and surgical features. Case report and review of the literature. J Neurosurg 1998;89:317-20. 14. Aleksic S, Budzilovich G, Greco MA, et alLiniencephaly: Neuropathologic study. Clin Neuropathol 2 (1983):55
  • 15. Myriantopulos NC, MelnickM. Studies in neural tube defects.:Epidemiologic and etiologic agents. Am J Med Genet 1987;18:404-405
  • 16. Jones KL. Smith's recognizable patterns of human malformation. Philadelphia: WB Saunders;1997.p:608-9
  • 17. Paterson SJ:Iniencephalus.J Obstet Gynecol BrEmp 51 (1944):330
  • 18. Yang LL. Neural tube defects. in:Gomella TU Cunnnigham MD, Eyal FG.,eds. Neonatology .3r edition .Appleton & Lange. 1998: 396.
There are 17 citations in total.

Details

Primary Language Turkish
Journal Section Articles
Authors

Nihan Uygur This is me

Feyza Yıldız This is me

Feray Güven This is me

Leyla Karadeniz This is me

Ümit Akyüz This is me

Aksu Say This is me

Publication Date April 1, 2003
Published in Issue Year 2003 Volume: 34 Issue: 3

Cite

APA Uygur, N., Yıldız, F., Güven, F., Karadeniz, L., et al. (2003). İniensefali. Olgu sunumu. Zeynep Kamil Tıp Bülteni, 34(3), 37-40. https://doi.org/10.16948/zktb.52845
AMA Uygur N, Yıldız F, Güven F, Karadeniz L, Akyüz Ü, Say A. İniensefali. Olgu sunumu. Zeynep Kamil Tıp Bülteni. April 2003;34(3):37-40. doi:10.16948/zktb.52845
Chicago Uygur, Nihan, Feyza Yıldız, Feray Güven, Leyla Karadeniz, Ümit Akyüz, and Aksu Say. “İniensefali. Olgu Sunumu”. Zeynep Kamil Tıp Bülteni 34, no. 3 (April 2003): 37-40. https://doi.org/10.16948/zktb.52845.
EndNote Uygur N, Yıldız F, Güven F, Karadeniz L, Akyüz Ü, Say A (April 1, 2003) İniensefali. Olgu sunumu. Zeynep Kamil Tıp Bülteni 34 3 37–40.
IEEE N. Uygur, F. Yıldız, F. Güven, L. Karadeniz, Ü. Akyüz, and A. Say, “İniensefali. Olgu sunumu”, Zeynep Kamil Tıp Bülteni, vol. 34, no. 3, pp. 37–40, 2003, doi: 10.16948/zktb.52845.
ISNAD Uygur, Nihan et al. “İniensefali. Olgu Sunumu”. Zeynep Kamil Tıp Bülteni 34/3 (April 2003), 37-40. https://doi.org/10.16948/zktb.52845.
JAMA Uygur N, Yıldız F, Güven F, Karadeniz L, Akyüz Ü, Say A. İniensefali. Olgu sunumu. Zeynep Kamil Tıp Bülteni. 2003;34:37–40.
MLA Uygur, Nihan et al. “İniensefali. Olgu Sunumu”. Zeynep Kamil Tıp Bülteni, vol. 34, no. 3, 2003, pp. 37-40, doi:10.16948/zktb.52845.
Vancouver Uygur N, Yıldız F, Güven F, Karadeniz L, Akyüz Ü, Say A. İniensefali. Olgu sunumu. Zeynep Kamil Tıp Bülteni. 2003;34(3):37-40.