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Holoprosencephaly
Luke L. Linscott, MD; Charles Raybaud, MD, FRCPC; Anne G. Osborn, MD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Holoprosencephaly (HPE)
              • Synonyms

                • Formerly called arrhinencephaly
              • Definitions

                • Incomplete separation of prosencephalon (hemispheres + deep gray nuclei)
                • Failure to delineate normal prosencephalic midline with absent/incomplete hemispheric and basal cleavage

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Ultrasonographic Findings

                        • Angiographic Findings

                          • Imaging Recommendations

                            DIFFERENTIAL DIAGNOSIS

                              PATHOLOGY

                              • General Features

                                • Staging, Grading, & Classification

                                  • Gross Pathologic & Surgical Features

                                    CLINICAL ISSUES

                                    • Presentation

                                      • Demographics

                                        • Natural History & Prognosis

                                          • Treatment

                                            DIAGNOSTIC CHECKLIST

                                            • Consider

                                              • Image Interpretation Pearls

                                                Selected References

                                                1. Dubourg C et al: Recent advances in understanding inheritance of holoprosencephaly. Am J Med Genet C Semin Med Genet. 178(2):258-69, 2018
                                                2. Yang E et al: A Practical approach to supratentorial brain malformations: what radiologists should know. Radiol Clin North Am. 55(4):609-27, 2017
                                                3. Griffiths PD et al: In utero MR imaging of fetal holoprosencephaly: a structured approach to diagnosis and classification. AJNR Am J Neuroradiol. 37(3):536-43, 2016
                                                4. Kaliaperumal C et al: Holoprosencephaly: antenatal and postnatal diagnosis and outcome. Childs Nerv Syst. 32(5):801-9, 2016
                                                5. Winter TC et al: Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 35(1):275-90, 2015
                                                6. Gregory LC et al: The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism. Clin Endocrinol (Oxf). 82(5):728-38, 2015
                                                7. Kruszka P et al: Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly. J Craniofac Surg. 26(1):3-5, 2015
                                                8. Petryk A et al: Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans. Wiley Interdiscip Rev Dev Biol. 4(1):17-32, 2015
                                                9. Lami F et al: Holoprosencephaly: report of four cases and genotype-phenotype correlations. J Genet. 92(1):97-101, 2013
                                                10. Arora K et al: Teaching NeuroImages: fused brain: does face predict the brain? Neurology. 79(23):e201, 2012
                                                11. Fernandes M et al: The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces. Clin Genet. 73(5):413-23, 2008
                                                12. Richieri-Costa A et al: Single maxillary central incisor, holoprosencephaly, and holoprosencephaly-like phenotype. Am J Med Genet A. 140(23):2594-7, 2006
                                                13. Hayashi M et al: Neuropathological evaluation of the diencephalon, basal ganglia and upper brainstem in alobar holoprosencephaly. Acta Neuropathol. 107(3):190-6, 2004
                                                14. Barkovich AJ et al: Analysis of the cerebral cortex in holoprosencephaly with attention to the sylvian fissures. AJNR Am J Neuroradiol. 23(1):143-50, 2002
                                                15. Blaas HG et al: Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol. 19(1):24-38, 2002
                                                16. Plawner LL et al: Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain. Neurology. 59(7):1058-66, 2002
                                                17. Simon EM et al: The middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol. 23(1):151-6, 2002
                                                18. Simon EM et al: The dorsal cyst in holoprosencephaly and the role of the thalamus in its formation. Neuroradiology. 43(9):787-91, 2001
                                                Related Anatomy
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                                                Related Differential Diagnoses
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                                                References
                                                Tables

                                                Tables

                                                KEY FACTS

                                                • Terminology

                                                  • Imaging

                                                    • Top Differential Diagnoses

                                                      • Pathology

                                                        • Clinical Issues

                                                          • Diagnostic Checklist

                                                            TERMINOLOGY

                                                            • Abbreviations

                                                              • Holoprosencephaly (HPE)
                                                            • Synonyms

                                                              • Formerly called arrhinencephaly
                                                            • Definitions

                                                              • Incomplete separation of prosencephalon (hemispheres + deep gray nuclei)
                                                              • Failure to delineate normal prosencephalic midline with absent/incomplete hemispheric and basal cleavage

                                                            IMAGING

                                                            • General Features

                                                              • Radiographic Findings

                                                                • CT Findings

                                                                  • MR Findings

                                                                    • Ultrasonographic Findings

                                                                      • Angiographic Findings

                                                                        • Imaging Recommendations

                                                                          DIFFERENTIAL DIAGNOSIS

                                                                            PATHOLOGY

                                                                            • General Features

                                                                              • Staging, Grading, & Classification

                                                                                • Gross Pathologic & Surgical Features

                                                                                  CLINICAL ISSUES

                                                                                  • Presentation

                                                                                    • Demographics

                                                                                      • Natural History & Prognosis

                                                                                        • Treatment

                                                                                          DIAGNOSTIC CHECKLIST

                                                                                          • Consider

                                                                                            • Image Interpretation Pearls

                                                                                              Selected References

                                                                                              1. Dubourg C et al: Recent advances in understanding inheritance of holoprosencephaly. Am J Med Genet C Semin Med Genet. 178(2):258-69, 2018
                                                                                              2. Yang E et al: A Practical approach to supratentorial brain malformations: what radiologists should know. Radiol Clin North Am. 55(4):609-27, 2017
                                                                                              3. Griffiths PD et al: In utero MR imaging of fetal holoprosencephaly: a structured approach to diagnosis and classification. AJNR Am J Neuroradiol. 37(3):536-43, 2016
                                                                                              4. Kaliaperumal C et al: Holoprosencephaly: antenatal and postnatal diagnosis and outcome. Childs Nerv Syst. 32(5):801-9, 2016
                                                                                              5. Winter TC et al: Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 35(1):275-90, 2015
                                                                                              6. Gregory LC et al: The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism. Clin Endocrinol (Oxf). 82(5):728-38, 2015
                                                                                              7. Kruszka P et al: Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly. J Craniofac Surg. 26(1):3-5, 2015
                                                                                              8. Petryk A et al: Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans. Wiley Interdiscip Rev Dev Biol. 4(1):17-32, 2015
                                                                                              9. Lami F et al: Holoprosencephaly: report of four cases and genotype-phenotype correlations. J Genet. 92(1):97-101, 2013
                                                                                              10. Arora K et al: Teaching NeuroImages: fused brain: does face predict the brain? Neurology. 79(23):e201, 2012
                                                                                              11. Fernandes M et al: The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces. Clin Genet. 73(5):413-23, 2008
                                                                                              12. Richieri-Costa A et al: Single maxillary central incisor, holoprosencephaly, and holoprosencephaly-like phenotype. Am J Med Genet A. 140(23):2594-7, 2006
                                                                                              13. Hayashi M et al: Neuropathological evaluation of the diencephalon, basal ganglia and upper brainstem in alobar holoprosencephaly. Acta Neuropathol. 107(3):190-6, 2004
                                                                                              14. Barkovich AJ et al: Analysis of the cerebral cortex in holoprosencephaly with attention to the sylvian fissures. AJNR Am J Neuroradiol. 23(1):143-50, 2002
                                                                                              15. Blaas HG et al: Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol. 19(1):24-38, 2002
                                                                                              16. Plawner LL et al: Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain. Neurology. 59(7):1058-66, 2002
                                                                                              17. Simon EM et al: The middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol. 23(1):151-6, 2002
                                                                                              18. Simon EM et al: The dorsal cyst in holoprosencephaly and the role of the thalamus in its formation. Neuroradiology. 43(9):787-91, 2001