Taiwanese Journal of Obstetrics and Gynecology
Volume 46, Issue 3 , Pages 199-208, September 2007

Prenatal Diagnosis of Iniencephaly

  • Chih-Ping Chen

      Affiliations

    • Corresponding Author InformationCorrespondence to: Dr Chih-Ping Chen, Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Department of Biotechnology, Asia University, Taichung, and Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan

Accepted 31 July 2007.

Article Outline

Summary 

Iniencephaly is characterized by a variable deficit of the occipital bones, resulting in an enlarged foramen magnum; partial or total absence of cervical and thoracic vertebrae with an irregular fusion of those present, accompanied by incomplete closure of the vertebral arches and/or bodies; significant shortening of the spinal column due to marked lordosis and hyperextension of the malformed cervicothoracic spine; and an upward-turned face and mandibular skin directly continuous with that of the chest due to the lack of neck. This article provides a comprehensive review of the reported cases of prenatally detected iniencephaly, including prenatal diagnosis, associated malformations, associated chromosomal abnormalities, and differential diagnosis. Prenatal diagnosis of a neural tube defect involving a body defect in the occiput and rachischisis of the cervical and thoracic spine with retroflexion of the head should raise the suspicion of iniencephaly. Iniencephaly may be associated with craniorachischisis and other structural anomalies. Prenatal diagnosis of non-isolated iniencephaly and craniorachischisis should alert one to the possibility of chromosomal abnormalities and prompt a cytogenetic investigation.

Key Words:  aneuploidy , craniorachischisis , iniencephaly , Jarcho-Levin syndrome , Klippel-Feil syndrome , prenatal diagnosis , spondylocostal dysostosis

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References 

  1. Saint-Hilaire IG. Iniencephalus. In: Bailliere JB, ed. Histoire des Anomalies de l'Organisation, Vol 2. Paris, 1836;308-10.
  2. Morocz I , Szeifert GT , Molnar P , Toth Z , Csecsei K , Papp Z . Prenatal diagnosis and pathoanatomy of iniencephaly . Clin Genet . 1986;30:81–86
  3. Osborne DF . Iniencephalus . Can Med Assoc J . 1948;59:474–475
  4. Stark AM . A report of two cases of iniencephalus . J Obstet Gynaecol Br Emp . 1951;58:462–464
  5. Lewis HL . Iniencephalus . Am J Obstet . 1897;35:11–53
  6. Howkins J , Lawrie RS . Iniencephalus . J Obstet Gynaecol Br Emp . 1939;46:25–31
  7. Woodward PJ , Quigley E . Iniencephaly . In:  Woodward PJ ,  Kennedy A ,  Sohaey R ,  Byrne JLB ,  Oh KY ,  Puchalski MD editor. Diagnostic Imaging: Obstetrics . Salt Lake City: Amirsys Inc; 2005;p. 10–14
  8. Foderaro AE , Abu-Yousef MM , Benda JA , Williamson RA , Smith WL . Antenatal ultrasound diagnosis of iniencephaly . J Clin Ultrasound . 1987;15:550–554
  9. Meizner I , Bar-Ziv J . Prenatal ultrasonic diagnosis of a rare case of iniencephaly apertus . J Clin Ultrasound . 1987;15:200–203
  10. Shoham Z , Caspi B , Chemke J , Dgani R , Lancet M . Iniencephaly: prenatal ultrasonographic diagnosis—a case report . J Perinat Med . 1988;16:139–143
  11. Hammer F , Scherrer C , Baumann H , Briner J , Schinzel A . Iniencephaly: prenatal and postnatal findings . Geburtshilfe Frauenheilkd . 1990;50:491–494 [In German]
  12. Meizner I , Levi A , Katz M , Maor E . Iniencephaly: a case report . J Reprod Med . 1992;37:885–888
  13. Sherer DM , Hearn-Stebbins B , Harvey W , Metlay LA , Abramowicz JS . Endovaginal sonographic diagnosis of iniencephaly apertus and craniorachischisis at 13 weeks, menstrual age . J Clin Ultrasound . 1993;21:124–127
  14. Grange G , Favre R , Gasser B . Endovaginal sonographic diagnosis of craniorachischisis at 13 weeks of gestation . Fetal Diagn Ther . 1994;9:391–394
  15. Dogan MM , Ekici E , Yapar EG , Soysal ME , Soysal SK , Gokmen O . Iniencephaly: sonographic-pathologic correlation of 19 cases . J Perinat Med . 1996;24:501–511
  16. Donaldson SJF , Wright CA , de Ravel TJL . Trisomy 18 with total craniorachischisis and thoraco-abdominoschisis . Prenat Diagn . 1999;19:580–582
  17. Sahid S , Sepulveda W , Dezerega V , Gutierrez J , Rodriguez L , Corral E . Iniencephaly: prenatal diagnosis and management . Prenat Diagn . 2000;20:202–205
  18. Balci S , Aypar E , Altinok G , Boduroglu K , Beksac MS . Prenatal diagnosis in three cases of iniencephaly with unusual postmortem findings . Prenat Diagn . 2001;21:558–562
  19. Halder A , Pahi J , Chaddha V , Agarwal SS . Sirenomelia sequence associated with craniorachischisis totalis, limb reduction and primitive heart . Indian Pediatr . 2001;38:1041–1045
  20. Marton T , Tanko A , Mezei G , Papp Z . Diagnosis of an unusual form of iniencephaly in the first trimester of pregnancy . Ultrasound Obstet Gynecol . 2001;18:549–551
  21. Jeanne-Pasquier C , Carles D , Alberti EM , Jacob B . Iniencephaly: four cases and a review of the literature . J Gynecol Obstet Biol Reprod (Paris) . 2002;31:276–282 [In French]
  22. Jeanne-Pasquier C , Jacob B , Dreyfus M , Herlicoviez M . Iniencephaly and early prenatal diagnosis . J Gynecol Obstet Biol Reprod (Paris) . 2002;31:387–389 [In French]
  23. Phadke SR , Thakur S . Prenatal diagnosis of iniencephaly and alobar holoprosencephaly with trisomy 13 mosaicism: a case report . Prenat Diagn . 2002;22:1240–1241
  24. Cuillier F , Koenig P , Lagarde L , Cartault JF . Transvaginal sonographic diagnosis of iniencephaly apertus and craniorachischisis at 9 weeks' gestation . Ultrasound Obstet Gynecol . 2003;22:657–658
  25. Rousso D , Psara A , Venizelos I , Tsimas V , Kourtis A , Panidis D . Prenatal ultrasonographic diagnosis of iniencephaly . J Obstet Gynaecol . 2003;23:572–573
  26. Halder A , Agarwal S , Pandey A . Iniencephaly and chromosome mosaicism: a report of two cases . Congenit Anom (Kyoto) . 2005;45:102–105
  27. Polat I, Gul A, Aslan H, Cebeci A, Ozseker B, Caglar B, et al. Prenatal diagnosis of pentalogy of Cantrell in three cases, two with craniorachischisis . J Clin Ultrasound . 2005;33:308–311
  28. Moore CA , Harmon JP , Padilla LM , Castro VB , Weaver DD . Neural tube defects and omphalocele in trisomy 18 . Clin Genet . 1988;34:98–103
  29. van Maldergem L , Gillerot Y , Koulischer L . Neural tube defects and omphalocele in trisomy 18 . Clin Genet . 1989;35:77–78
  30. Wright YM , Clark WE , Breg WR . Craniorachischisis in a partially trisomic 11 fetus in a family with reproductive failure and a reciprocal translocation, t(6p plus;11q minus) . J Med Genet . 1974;11:69–75
  31. Passarge E , True CW , Sueoka WT , Baumgartner NR , Keer KR . Malformations of the central nervous system in trisomy 18 syndrome . J Pediatr . 1966;69:771–778
  32. Flannery DB , Kahler SG . Neural tube defects in trisomy 18 . Prenat Diagn . 1986;6:97–99
  33. Seller MJ . Neural tube defects, chromosome aberrations and multiple closure sites for the human neural tube . Clin Dysmorphol . 1995;4:202–207
  34. Zhang J , Hagopian-Donaldson S , Serbedzija G , et al.   Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2 . Nature . 1996;381:238–241
  35. Berge-Lefranc JL , Jay P , Massacrier A , et al.   Characterization of the human jumonji gene . Hum Mol Genet . 1996;5:1637–1641
  36. Gunderson CH , Greenspan RH , Glaser GH , Lubs HA . The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion . Medicine (Baltimore) . 1967;46:491–512
  37. Clarke RA , Singh S , McKenzie H , Kearsley JH , Yip MY . Familial Klippel-Feil syndrome and paracentric inversion inv(8) (q22.2q23.3) . Am J Hum Genet . 1995;57:1364–1370
  38. Fukushima Y , Ohashi H , Wakui K , Nishimoto H , Sato M , Aihara T . De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly . Am J Med Genet . 1995;57:447–449
  39. Papagrigorakis MJ , Synodinos PN , Daliouris CP , Metaxotou C . De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia . Eur J Pediatr . 2003;162:594–597
  40. Goto M , Nishimura G , Nagai T , Yamazawa K , Ogata T . Familial Klippel-Feil anomaly and t(5;8)(q35.1;p21.1) translocation . Am J Med Genet A . 2006;140:1013–1015

PII: S1028-4559(08)60021-2

doi:10.1016/S1028-4559(08)60021-2

Taiwanese Journal of Obstetrics and Gynecology
Volume 46, Issue 3 , Pages 199-208, September 2007

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