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Holoprosencephaly Variants
Anna Illner, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Solitary median maxillary central incisor (SMMCI)
                • Middle interhemispheric variant of holoprosencephaly (MIH)
              • Synonyms

                • Syntelencephaly
              • Definitions

                • SMMCI: 1 of several microforms of autosomal dominant holoprosencephaly (HPE)
                • MIH: HPE variant characterized by dorsal telencephalic fusion

              IMAGING

              • General Features

                • CT Findings

                  • MR Findings

                    • Prenatal US/MR

                      • Angiographic Findings

                        • Imaging Recommendations

                          DIFFERENTIAL DIAGNOSIS

                            PATHOLOGY

                            • General Features

                              • Gross Pathologic & Surgical Features

                                • Microscopic Features

                                  CLINICAL ISSUES

                                  • Presentation

                                    • Demographics

                                      • Natural History & Prognosis

                                        • Treatment

                                          DIAGNOSTIC CHECKLIST

                                          • Image Interpretation Pearls

                                            • Reporting Tips

                                              Selected References

                                              1. Ginat DT et al: CT and MRI of congenital nasal lesions in syndromic conditions. Pediatr Radiol. ePub, 2015
                                              2. Winter TC et al: Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 35(1):275-90, 2015
                                              3. Lygidakis NN et al: Solitary median maxillary central incisor syndrome (SMMCI) with congenital nasal puriform aperture stenosis: literature review and case report with comprehensive dental treatment and 14 years follow-up. Eur Arch Paediatr Dent. 14(6):417-23, 2013
                                              4. Atalar MH et al: holoprosencephaly associated with bilateral perisylvian polymicrogyria. Pediatr Int. 50(2):241-4, 2008
                                              5. Tabatabaie F et al: morphology in children with solitary median maxillary central incisor (SMMCI). Orthod Craniofac Res. 11(2):96-104, 2008
                                              6. Lewis AJ et al: Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype. Neurology. 59(12): 1860-5, 2002
                                              7. Simon EM et al: The middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol. 23(1): 151-6, 2002
                                              8. Cho SY et al: stature: a report of three cases. Int J Paediatr Dent. 2006 Mar;16(2):128-34. PubMed PMID: 16430527.
                                              9. Garavelli L et al: Gurrieri F, Neri G. Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.
                                              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

                                                            • Solitary median maxillary central incisor (SMMCI)
                                                            • Middle interhemispheric variant of holoprosencephaly (MIH)
                                                          • Synonyms

                                                            • Syntelencephaly
                                                          • Definitions

                                                            • SMMCI: 1 of several microforms of autosomal dominant holoprosencephaly (HPE)
                                                            • MIH: HPE variant characterized by dorsal telencephalic fusion

                                                          IMAGING

                                                          • General Features

                                                            • CT Findings

                                                              • MR Findings

                                                                • Prenatal US/MR

                                                                  • Angiographic Findings

                                                                    • Imaging Recommendations

                                                                      DIFFERENTIAL DIAGNOSIS

                                                                        PATHOLOGY

                                                                        • General Features

                                                                          • Gross Pathologic & Surgical Features

                                                                            • Microscopic Features

                                                                              CLINICAL ISSUES

                                                                              • Presentation

                                                                                • Demographics

                                                                                  • Natural History & Prognosis

                                                                                    • Treatment

                                                                                      DIAGNOSTIC CHECKLIST

                                                                                      • Image Interpretation Pearls

                                                                                        • Reporting Tips

                                                                                          Selected References

                                                                                          1. Ginat DT et al: CT and MRI of congenital nasal lesions in syndromic conditions. Pediatr Radiol. ePub, 2015
                                                                                          2. Winter TC et al: Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 35(1):275-90, 2015
                                                                                          3. Lygidakis NN et al: Solitary median maxillary central incisor syndrome (SMMCI) with congenital nasal puriform aperture stenosis: literature review and case report with comprehensive dental treatment and 14 years follow-up. Eur Arch Paediatr Dent. 14(6):417-23, 2013
                                                                                          4. Atalar MH et al: holoprosencephaly associated with bilateral perisylvian polymicrogyria. Pediatr Int. 50(2):241-4, 2008
                                                                                          5. Tabatabaie F et al: morphology in children with solitary median maxillary central incisor (SMMCI). Orthod Craniofac Res. 11(2):96-104, 2008
                                                                                          6. Lewis AJ et al: Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype. Neurology. 59(12): 1860-5, 2002
                                                                                          7. Simon EM et al: The middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol. 23(1): 151-6, 2002
                                                                                          8. Cho SY et al: stature: a report of three cases. Int J Paediatr Dent. 2006 Mar;16(2):128-34. PubMed PMID: 16430527.
                                                                                          9. Garavelli L et al: Gurrieri F, Neri G. Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.