link
Bookmarks
Alobar Holoprosencephaly
Anne M. Kennedy, MD
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Log inSubscribe
1
7
2
7

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Definitions

                • Alobar holoprosencephaly (ALHPE)
                  • Most severe form of holoprosencephaly (HPE)
                  • Complete/near complete lack of separation of cerebral hemispheres (i.e., no lobes)

              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. Winter TC et al: Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 35(1):275-90, 2015
                                        2. Hahn JS et al: Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation. Am J Med Genet C Semin Med Genet. 154C(1):120-32, 2010
                                        3. Marcorelles P et al: Neuropathology of holoprosencephaly. Am J Med Genet C Semin Med Genet. 154C(1):109-19, 2010
                                        4. Bardo DME. Pediatric neuroradiology, part 1: Embryologic basis for brain malformation. Applied Radiology. 38(7):29-40, 2009
                                        5. Blaas HG et al: Sonoembryology and early prenatal diagnosis of neural anomalies. Prenat Diagn. 29(4):312-25, 2009
                                        6. Mighell AS et al: Post-natal investigations: management and prognosis for fetuses with CNS anomalies identified in utero excluding neurosurgical problems. Prenat Diagn. 29(4):442-9, 2009
                                        7. Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-54, 2009
                                        8. Encha-Razavi F et al: A practical approach to the examination of the malformed fetal brain: impact on genetic counselling. Pathology. 40(2):180-7, 2008
                                        9. Barkovich AJ: Congenital malformations of the brain and skull. In Pediatric Neuroimaging. Philadelphia: Lippincott Williams and Wilkins. 291-439, 2005
                                        10. Timor-Tritsch IE et al: Three-dimensional inversion rendering in the first- and early second-trimester fetal brain: its use in holoprosencephaly. Ultrasound Obstet Gynecol. 32(6):744-50, 2008
                                        11. Aguilella C et al: Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. Hum Genet. 112(2):131-4, 2003
                                        12. Chen CP et al: Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis. Prenat Diagn. 22(1):5-7, 2002
                                        13. Kjaer I et al: Midline skeletodental morphology in holoprosencephaly. Cleft Palate Craniofac J. 39(3):357-63, 2002
                                        14. Situ D et al: Investigation of a cyclopic, human, term fetus by use of magnetic resonance imaging (MRI). J Anat. 200(5):431-8, 2002
                                        15. Cannistra C et al: Cyclopia: a radiological and anatomical craniofacial post mortem study. J Craniomaxillofac Surg. 29(3):150-5, 2001
                                        16. Jeng LB et al: Genetic advances in central nervous system malformations in the fetus and neonate. Semin Pediatr Neurol. 8(2):89-99, 2001
                                        17. Nowaczyk MJ et al: Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype. Am J Med Genet. 103(1):75-80, 2001
                                        18. Lai TH et al: Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound. Prenat Diagn. 20(5):400-3, 2000
                                        19. Leonard NJ et al: Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat. Prenat Diagn. 20(12):947-9, 2000
                                        20. Armbruster-Moraes E et al: Holoprosencephaly in a Klinefelter fetus. Am J Med Genet. 85(5):511-2, 1999
                                        21. Arnold WH et al: Cranio-facial skeletal development in three human synophthalmic holoprosencephalic fetuses. Anat Anz. 180(1):45-53, 1998
                                        Related Anatomy
                                        Loading...
                                        Related Differential Diagnoses
                                        Loading...
                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Pathology

                                                • Clinical Issues

                                                  • Diagnostic Checklist

                                                    TERMINOLOGY

                                                    • Definitions

                                                      • Alobar holoprosencephaly (ALHPE)
                                                        • Most severe form of holoprosencephaly (HPE)
                                                        • Complete/near complete lack of separation of cerebral hemispheres (i.e., no lobes)

                                                    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. Winter TC et al: Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 35(1):275-90, 2015
                                                                              2. Hahn JS et al: Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation. Am J Med Genet C Semin Med Genet. 154C(1):120-32, 2010
                                                                              3. Marcorelles P et al: Neuropathology of holoprosencephaly. Am J Med Genet C Semin Med Genet. 154C(1):109-19, 2010
                                                                              4. Bardo DME. Pediatric neuroradiology, part 1: Embryologic basis for brain malformation. Applied Radiology. 38(7):29-40, 2009
                                                                              5. Blaas HG et al: Sonoembryology and early prenatal diagnosis of neural anomalies. Prenat Diagn. 29(4):312-25, 2009
                                                                              6. Mighell AS et al: Post-natal investigations: management and prognosis for fetuses with CNS anomalies identified in utero excluding neurosurgical problems. Prenat Diagn. 29(4):442-9, 2009
                                                                              7. Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-54, 2009
                                                                              8. Encha-Razavi F et al: A practical approach to the examination of the malformed fetal brain: impact on genetic counselling. Pathology. 40(2):180-7, 2008
                                                                              9. Barkovich AJ: Congenital malformations of the brain and skull. In Pediatric Neuroimaging. Philadelphia: Lippincott Williams and Wilkins. 291-439, 2005
                                                                              10. Timor-Tritsch IE et al: Three-dimensional inversion rendering in the first- and early second-trimester fetal brain: its use in holoprosencephaly. Ultrasound Obstet Gynecol. 32(6):744-50, 2008
                                                                              11. Aguilella C et al: Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. Hum Genet. 112(2):131-4, 2003
                                                                              12. Chen CP et al: Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis. Prenat Diagn. 22(1):5-7, 2002
                                                                              13. Kjaer I et al: Midline skeletodental morphology in holoprosencephaly. Cleft Palate Craniofac J. 39(3):357-63, 2002
                                                                              14. Situ D et al: Investigation of a cyclopic, human, term fetus by use of magnetic resonance imaging (MRI). J Anat. 200(5):431-8, 2002
                                                                              15. Cannistra C et al: Cyclopia: a radiological and anatomical craniofacial post mortem study. J Craniomaxillofac Surg. 29(3):150-5, 2001
                                                                              16. Jeng LB et al: Genetic advances in central nervous system malformations in the fetus and neonate. Semin Pediatr Neurol. 8(2):89-99, 2001
                                                                              17. Nowaczyk MJ et al: Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype. Am J Med Genet. 103(1):75-80, 2001
                                                                              18. Lai TH et al: Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound. Prenat Diagn. 20(5):400-3, 2000
                                                                              19. Leonard NJ et al: Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat. Prenat Diagn. 20(12):947-9, 2000
                                                                              20. Armbruster-Moraes E et al: Holoprosencephaly in a Klinefelter fetus. Am J Med Genet. 85(5):511-2, 1999
                                                                              21. Arnold WH et al: Cranio-facial skeletal development in three human synophthalmic holoprosencephalic fetuses. Anat Anz. 180(1):45-53, 1998