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Semilobar Holoprosencephaly
Anne M. Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Definitions

              • Semilobar holoprosencephaly (SLHPE)
                • Intermediate severity in holoprosencephaly (HPE) spectrum due to partial cleavage of prosencephalon

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • MR Findings

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      CLINICAL ISSUES

                      • Presentation

                        • 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. Mallick S et al: Semilobar holoprosencephaly with 21q22 deletion: an autopsy report. BMJ Case Rep. 2014, 2014
                                3. Dyment DA et al: Recent advances in the genetic etiology of brain malformations. Curr Neurol Neurosci Rep. 13(8):364, 2013
                                4. Oncel MY et al: Severe semilobar holoprosencephaly and lissencephaly associated with cebocephaly in a newborn. Genet Couns. 23(3):341-6, 2012
                                5. 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
                                6. Marcorelles P et al: Neuropathology of holoprosencephaly. Am J Med Genet C Semin Med Genet. 154C(1):109-19, 2010
                                7. Bardo DME. Pediatric neuroradiology, part 1: Embryologic basis for brain malformation. Applied Radiology. 38(7):29-40, 2009
                                8. Blaas HG et al: Sonoembryology and early prenatal diagnosis of neural anomalies. Prenat Diagn. 29(4):312-25, 2009
                                9. 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
                                10. Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-54, 2009
                                11. 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
                                12. Barkovich AJ: Congenital malformations of the brain and skull. In Pediatric Neuroimaging. Philadelphia: Lippincott Williams and Wilkins. 291-439, 2005
                                13. Aguilella C et al: Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. Hum Genet. 112(2):131-4, 2003
                                14. 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
                                15. Kjaer I et al: Midline skeletodental morphology in holoprosencephaly. Cleft Palate Craniofac J. 39(3):357-63, 2002
                                16. 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
                                17. Cannistra C et al: Cyclopia: a radiological and anatomical craniofacial post mortem study. J Craniomaxillofac Surg. 29(3):150-5, 2001
                                18. Chasen ST et al: The role of cephalocentesis in modern obstetrics. Am J Obstet Gynecol. 185(3):734-6, 2001
                                19. Jeng LB et al: Genetic advances in central nervous system malformations in the fetus and neonate. Semin Pediatr Neurol. 8(2):89-99, 2001
                                20. 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
                                21. Lai TH et al: Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound. Prenat Diagn. 20(5):400-3, 2000
                                22. 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
                                23. Armbruster-Moraes E et al: Holoprosencephaly in a Klinefelter fetus. Am J Med Genet. 85(5):511-2, 1999
                                24. Arnold WH et al: Cranio-facial skeletal development in three human synophthalmic holoprosencephalic fetuses. Ann Anat. 180(1):45-53, 1998
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Top Differential Diagnoses

                                      • Clinical Issues

                                        • Diagnostic Checklist

                                          TERMINOLOGY

                                          • Definitions

                                            • Semilobar holoprosencephaly (SLHPE)
                                              • Intermediate severity in holoprosencephaly (HPE) spectrum due to partial cleavage of prosencephalon

                                          IMAGING

                                          • General Features

                                            • Ultrasonographic Findings

                                              • MR Findings

                                                DIFFERENTIAL DIAGNOSIS

                                                  PATHOLOGY

                                                  • General Features

                                                    CLINICAL ISSUES

                                                    • Presentation

                                                      • 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. Mallick S et al: Semilobar holoprosencephaly with 21q22 deletion: an autopsy report. BMJ Case Rep. 2014, 2014
                                                              3. Dyment DA et al: Recent advances in the genetic etiology of brain malformations. Curr Neurol Neurosci Rep. 13(8):364, 2013
                                                              4. Oncel MY et al: Severe semilobar holoprosencephaly and lissencephaly associated with cebocephaly in a newborn. Genet Couns. 23(3):341-6, 2012
                                                              5. 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
                                                              6. Marcorelles P et al: Neuropathology of holoprosencephaly. Am J Med Genet C Semin Med Genet. 154C(1):109-19, 2010
                                                              7. Bardo DME. Pediatric neuroradiology, part 1: Embryologic basis for brain malformation. Applied Radiology. 38(7):29-40, 2009
                                                              8. Blaas HG et al: Sonoembryology and early prenatal diagnosis of neural anomalies. Prenat Diagn. 29(4):312-25, 2009
                                                              9. 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
                                                              10. Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-54, 2009
                                                              11. 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
                                                              12. Barkovich AJ: Congenital malformations of the brain and skull. In Pediatric Neuroimaging. Philadelphia: Lippincott Williams and Wilkins. 291-439, 2005
                                                              13. Aguilella C et al: Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. Hum Genet. 112(2):131-4, 2003
                                                              14. 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
                                                              15. Kjaer I et al: Midline skeletodental morphology in holoprosencephaly. Cleft Palate Craniofac J. 39(3):357-63, 2002
                                                              16. 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
                                                              17. Cannistra C et al: Cyclopia: a radiological and anatomical craniofacial post mortem study. J Craniomaxillofac Surg. 29(3):150-5, 2001
                                                              18. Chasen ST et al: The role of cephalocentesis in modern obstetrics. Am J Obstet Gynecol. 185(3):734-6, 2001
                                                              19. Jeng LB et al: Genetic advances in central nervous system malformations in the fetus and neonate. Semin Pediatr Neurol. 8(2):89-99, 2001
                                                              20. 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
                                                              21. Lai TH et al: Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound. Prenat Diagn. 20(5):400-3, 2000
                                                              22. 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
                                                              23. Armbruster-Moraes E et al: Holoprosencephaly in a Klinefelter fetus. Am J Med Genet. 85(5):511-2, 1999
                                                              24. Arnold WH et al: Cranio-facial skeletal development in three human synophthalmic holoprosencephalic fetuses. Ann Anat. 180(1):45-53, 1998