link
Bookmarks
Aprosencephaly, Atelencephaly
Anne Kennedy, MD
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Subscribe
0
3
2
0

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Definitions

                • Aprosencephaly: Failed development of prosencephalon (forebrain precursor)
                • XK aprosencephaly: Syndromal aprosencephaly associated with limb, heart, genital defects
                • Atelencephaly: Abnormal prosencephalon division into telencephalon/diencephalon with only rudimentary diencephalic structures formed

              IMAGING

              • General Features

                • Ultrasonographic Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          • Microscopic Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. Fallet-Bianco C: Neuropathology of holoprosencephaly. Am J Med Genet C Semin Med Genet. 178(2):214-28, 2018
                                        2. Nagaraj UD et al: Prenatal evaluation of atelencephaly. Pediatr Radiol. 46(1):145-7, 2016
                                        3. Laure-Kamionowska M et al: Holoprosencephaly with agenesia of the prosencephalic ventricle. Folia Neuropathol. 53(4):387-94, 2015
                                        4. Takano T et al: Aprosencephaly with rhombencephalosynapsis and hamartomatous midbrain dysplasia. Neuropathol Appl Neurobiol. 36(4):353-5, 2010
                                        5. Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-54, 2009
                                        6. 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
                                        7. Pasquier L et al: First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations. J Med Genet. 42(1):e4, 2005
                                        8. Renzetti G et al: XK-aprosencephaly and related entities. Am J Med Genet A. 138(4):401-10, 2005
                                        9. McPherson E et al: Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome? Birth Defects Res A Clin Mol Teratol. 70(8):537-44, 2004
                                        10. Kajantie E et al: A fetus suggesting an extension of theXK-aprosencephaly spectrum phenotype. Clin Dysmorphol. 11(4):299-301, 2002
                                        11. Sergi C et al: The vesicular forebrain (pseudo-aprosencephaly): a missing link in the teratogenetic spectrum of the defective brain anlage and its discrimination from aprosencephaly. Acta Neuropathol (Berl). 99(3):277-84, 2000
                                        12. al-Gazali LI et al: XK aprosencephaly. Clin Dysmorphol. 7(2):143-7, 1998
                                        13. Townes PL et al: XK aprosencephaly and anencephaly in sibs. Am J Med Genet. 29(3):523-8, 1988
                                        Related Anatomy
                                        Loading...
                                        Related Differential Diagnoses
                                        Loading...
                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Pathology

                                                • Clinical Issues

                                                  • Diagnostic Checklist

                                                    TERMINOLOGY

                                                    • Definitions

                                                      • Aprosencephaly: Failed development of prosencephalon (forebrain precursor)
                                                      • XK aprosencephaly: Syndromal aprosencephaly associated with limb, heart, genital defects
                                                      • Atelencephaly: Abnormal prosencephalon division into telencephalon/diencephalon with only rudimentary diencephalic structures formed

                                                    IMAGING

                                                    • General Features

                                                      • Ultrasonographic Findings

                                                        • Imaging Recommendations

                                                          DIFFERENTIAL DIAGNOSIS

                                                            PATHOLOGY

                                                            • General Features

                                                              • Gross Pathologic & Surgical Features

                                                                • Microscopic Features

                                                                  CLINICAL ISSUES

                                                                  • Presentation

                                                                    • Demographics

                                                                      • Natural History & Prognosis

                                                                        • Treatment

                                                                          DIAGNOSTIC CHECKLIST

                                                                          • Consider

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. Fallet-Bianco C: Neuropathology of holoprosencephaly. Am J Med Genet C Semin Med Genet. 178(2):214-28, 2018
                                                                              2. Nagaraj UD et al: Prenatal evaluation of atelencephaly. Pediatr Radiol. 46(1):145-7, 2016
                                                                              3. Laure-Kamionowska M et al: Holoprosencephaly with agenesia of the prosencephalic ventricle. Folia Neuropathol. 53(4):387-94, 2015
                                                                              4. Takano T et al: Aprosencephaly with rhombencephalosynapsis and hamartomatous midbrain dysplasia. Neuropathol Appl Neurobiol. 36(4):353-5, 2010
                                                                              5. Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-54, 2009
                                                                              6. 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
                                                                              7. Pasquier L et al: First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations. J Med Genet. 42(1):e4, 2005
                                                                              8. Renzetti G et al: XK-aprosencephaly and related entities. Am J Med Genet A. 138(4):401-10, 2005
                                                                              9. McPherson E et al: Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome? Birth Defects Res A Clin Mol Teratol. 70(8):537-44, 2004
                                                                              10. Kajantie E et al: A fetus suggesting an extension of theXK-aprosencephaly spectrum phenotype. Clin Dysmorphol. 11(4):299-301, 2002
                                                                              11. Sergi C et al: The vesicular forebrain (pseudo-aprosencephaly): a missing link in the teratogenetic spectrum of the defective brain anlage and its discrimination from aprosencephaly. Acta Neuropathol (Berl). 99(3):277-84, 2000
                                                                              12. al-Gazali LI et al: XK aprosencephaly. Clin Dysmorphol. 7(2):143-7, 1998
                                                                              13. Townes PL et al: XK aprosencephaly and anencephaly in sibs. Am J Med Genet. 29(3):523-8, 1988