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Iniencephaly
Paula J. Woodward, MD
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KEY FACTS

  • Imaging

    • Top Differential Diagnoses

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Synonyms

            • Historically referred to as stargazer malformation

          IMAGING

          • General Features

            • Ultrasonographic Findings

              • MR Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Gross Pathologic & Surgical Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. Pollazzon M et al: Complex cranio-vertebral malformation: disruption sequence or iniencephaly? Clin Dysmorphol. 27(3):105-8, 2018
                                    2. Diaz Primera R et al: Iniencephaly apertus: prenatal autopsy by sonography and embryoscopy. J Ultrasound Med. 36(10):2188-9, 2017
                                    3. Toru HS et al: Associated anomalies with neural tube defects in fetal autopsies. J Matern Fetal Neonatal Med. 1-5, 2015
                                    4. Volpe P et al: Abnormal sonographic appearance of posterior brain at 11-14weeks and fetal outcome. Prenat Diagn. 35(7):717-23, 2015
                                    5. Chikkannaiah P et al: Iniencephaly: Radiological and pathological features of a series of three cases. J Neurosci Rural Pract. 5(4):389-93, 2014
                                    6. Tokmak A et al: Iniencephaly and holoprosencephaly: report of a rare association. Case Rep Obstet Gynecol. 2014:849589, 2014
                                    7. Dogan S et al: Early prenatal diagnosis of iniencephaly associated with holoprosencephaly and cyclops. J Obstet Gynaecol. 33(2):201-2, 2013
                                    8. Guala A et al: Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome? Clin Dysmorphol. 22(1):29-32, 2013
                                    9. Sepulveda W: Three-dimensional sonography of fetal iniencephaly. J Ultrasound Med. 31(8):1296-8, 2012
                                    10. Kulkarni PR et al: Iniencephaly clausus: a case report with review of literature. J Pediatr Neurosci. 6(2):121-3, 2011
                                    11. Gadodia A et al: Antenatal Sonography and MRI of Iniencephaly apertus and clausus. Fetal Diagn Ther. 27(3):178-80, 2010
                                    12. Nowaczyk MJ: The blemmy: a medieval grotesque inspired by iniencephaly? Am J Med Genet A. 152A(6):1583-5, 2010
                                    13. Shams Amiri R et al: Iniencephaly: clinical, radiological and surgical findings. Pediatr Neurosurg. 46(4):290-3, 2010
                                    14. Joó JG et al: Major diagnostic and pathological features of iniencephaly based on twenty-four cases. Fetal Diagn Ther. 24(1):1-6, 2008
                                    15. Tugrul S et al: Iniencephaly: Prenatal diagnosis with postmortem findings. J Obstet Gynaecol Res. 33(4):566-9, 2007
                                    16. Halder A et al: Iniencephaly and chromosome mosaicism: a report of two cases. Congenit Anom (Kyoto). 45(3):102-5, 2005
                                    17. Rousso D et al: Prenatal ultrasonographic diagnosis of iniencephaly. J Obstet Gynaecol. 23(5):572-3, 2003
                                    18. Phadke SR et al: Prenatal diagnosis of iniencephaly and alobar holoprosencephaly with trisomy 13 mosaicism: a case report. Prenat Diagn. 22(13):1240-1, 2002
                                    19. Balci S et al: Prenatal diagnosis in three cases of iniencephaly with unusual postmortem findings. Prenat Diagn. 21(7):558-62, 2001
                                    20. Shipp TD et al: The prognostic significance of hyperextension of the fetal head detected antenatally with ultrasound. Ultrasound Obstet Gynecol. 15(5):391-6, 2000
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Imaging

                                      • Top Differential Diagnoses

                                        • Pathology

                                          • Clinical Issues

                                            TERMINOLOGY

                                            • Synonyms

                                              • Historically referred to as stargazer malformation

                                            IMAGING

                                            • General Features

                                              • Ultrasonographic Findings

                                                • MR Findings

                                                  • Imaging Recommendations

                                                    DIFFERENTIAL DIAGNOSIS

                                                      PATHOLOGY

                                                      • General Features

                                                        • Gross Pathologic & Surgical Features

                                                          CLINICAL ISSUES

                                                          • Presentation

                                                            • Demographics

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  DIAGNOSTIC CHECKLIST

                                                                  • Consider

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. Pollazzon M et al: Complex cranio-vertebral malformation: disruption sequence or iniencephaly? Clin Dysmorphol. 27(3):105-8, 2018
                                                                      2. Diaz Primera R et al: Iniencephaly apertus: prenatal autopsy by sonography and embryoscopy. J Ultrasound Med. 36(10):2188-9, 2017
                                                                      3. Toru HS et al: Associated anomalies with neural tube defects in fetal autopsies. J Matern Fetal Neonatal Med. 1-5, 2015
                                                                      4. Volpe P et al: Abnormal sonographic appearance of posterior brain at 11-14weeks and fetal outcome. Prenat Diagn. 35(7):717-23, 2015
                                                                      5. Chikkannaiah P et al: Iniencephaly: Radiological and pathological features of a series of three cases. J Neurosci Rural Pract. 5(4):389-93, 2014
                                                                      6. Tokmak A et al: Iniencephaly and holoprosencephaly: report of a rare association. Case Rep Obstet Gynecol. 2014:849589, 2014
                                                                      7. Dogan S et al: Early prenatal diagnosis of iniencephaly associated with holoprosencephaly and cyclops. J Obstet Gynaecol. 33(2):201-2, 2013
                                                                      8. Guala A et al: Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome? Clin Dysmorphol. 22(1):29-32, 2013
                                                                      9. Sepulveda W: Three-dimensional sonography of fetal iniencephaly. J Ultrasound Med. 31(8):1296-8, 2012
                                                                      10. Kulkarni PR et al: Iniencephaly clausus: a case report with review of literature. J Pediatr Neurosci. 6(2):121-3, 2011
                                                                      11. Gadodia A et al: Antenatal Sonography and MRI of Iniencephaly apertus and clausus. Fetal Diagn Ther. 27(3):178-80, 2010
                                                                      12. Nowaczyk MJ: The blemmy: a medieval grotesque inspired by iniencephaly? Am J Med Genet A. 152A(6):1583-5, 2010
                                                                      13. Shams Amiri R et al: Iniencephaly: clinical, radiological and surgical findings. Pediatr Neurosurg. 46(4):290-3, 2010
                                                                      14. Joó JG et al: Major diagnostic and pathological features of iniencephaly based on twenty-four cases. Fetal Diagn Ther. 24(1):1-6, 2008
                                                                      15. Tugrul S et al: Iniencephaly: Prenatal diagnosis with postmortem findings. J Obstet Gynaecol Res. 33(4):566-9, 2007
                                                                      16. Halder A et al: Iniencephaly and chromosome mosaicism: a report of two cases. Congenit Anom (Kyoto). 45(3):102-5, 2005
                                                                      17. Rousso D et al: Prenatal ultrasonographic diagnosis of iniencephaly. J Obstet Gynaecol. 23(5):572-3, 2003
                                                                      18. Phadke SR et al: Prenatal diagnosis of iniencephaly and alobar holoprosencephaly with trisomy 13 mosaicism: a case report. Prenat Diagn. 22(13):1240-1, 2002
                                                                      19. Balci S et al: Prenatal diagnosis in three cases of iniencephaly with unusual postmortem findings. Prenat Diagn. 21(7):558-62, 2001
                                                                      20. Shipp TD et al: The prognostic significance of hyperextension of the fetal head detected antenatally with ultrasound. Ultrasound Obstet Gynecol. 15(5):391-6, 2000