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Aprosencephaly, Atelencephaly
Anne M. Kennedy, MD
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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. Takano T et al: Aprosencephaly with rhombencephalosynapsis and hamartomatous midbrain dysplasia. Neuropathol Appl Neurobiol. 36(4):353-5, 2010
                                        2. Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-54, 2009
                                        3. 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
                                        4. 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
                                        5. Renzetti G et al: XK-aprosencephaly and related entities. Am J Med Genet A. 138(4):401-10, 2005
                                        6. 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
                                        7. Kajantie E et al: A fetus suggesting an extension of theXK-aprosencephaly spectrum phenotype. Clin Dysmorphol. 11(4):299-301, 2002
                                        8. 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
                                        9. al-Gazali LI et al: XK aprosencephaly. Clin Dysmorphol. 7(2):143-7, 1998
                                        10. Ippel PF et al: Atelencephalic microcephaly: a case report and review of the literature. Eur J Pediatr. 157(6):493-7, 1998
                                        11. Labrune P et al: Severe brain and limb defects with possible autosomal recessive inheritance: a series of six cases and review of the literature. Am J Med Genet. 73(2):144-9, 1997
                                        12. Florell SR et al: Aprosencephaly and cerebellar dysgenesis in sibs. Am J Med Genet. 63(4):542-8, 1996
                                        13. Acampora D et al: Forebrain and midbrain regions are deleted in Otx2-/- mutants due to a defective anterior neuroectoderm specification during gastrulation. Development. 121(10):3279-90, 1995
                                        14. Harris CP et al: Atelencephalic aprosencephaly. J Child Neurol. 9(4):412-6, 1994
                                        15. Brown S et al: Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet. 45(1):52-9, 1993
                                        16. Goldsmith CL et al: Mosaic r(13) in an infant with aprosencephaly. Am J Med Genet. 47(4):531-3, 1993
                                        17. Norman AM et al: Hypoplastic thumbs and hydranencephaly: a new syndrome? Clin Dysmorphol. 1(2):121-3, 1992
                                        18. Kim TS et al: Aprosencephaly: review of the literature and report of a case with cerebellar hypoplasia, pigmented epithelial cyst and Rathke's cleft cyst. Acta Neuropathol (Berl). 79(4):424-31, 1990
                                        19. Townes PL et al: XK aprosencephaly and anencephaly in sibs. Am J Med Genet. 29(3):523-8, 1988
                                        20. Siebert JR et al: Atelencephalic microcephaly in a 21-week human fetus. Teratology. 34(1):9-19, 1986
                                        21. Martin RA et al: A review and case report of aprosencephaly and the XK aprosencephaly syndrome. Am J Med Genet. 11(3):369-71, 1982
                                        22. Iivanainen M et al: Atelencephaly. Dev Med Child Neurol. 19(5):663-8, 1977
                                        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

                                                    • 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. Takano T et al: Aprosencephaly with rhombencephalosynapsis and hamartomatous midbrain dysplasia. Neuropathol Appl Neurobiol. 36(4):353-5, 2010
                                                                              2. Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-54, 2009
                                                                              3. 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
                                                                              4. 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
                                                                              5. Renzetti G et al: XK-aprosencephaly and related entities. Am J Med Genet A. 138(4):401-10, 2005
                                                                              6. 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
                                                                              7. Kajantie E et al: A fetus suggesting an extension of theXK-aprosencephaly spectrum phenotype. Clin Dysmorphol. 11(4):299-301, 2002
                                                                              8. 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
                                                                              9. al-Gazali LI et al: XK aprosencephaly. Clin Dysmorphol. 7(2):143-7, 1998
                                                                              10. Ippel PF et al: Atelencephalic microcephaly: a case report and review of the literature. Eur J Pediatr. 157(6):493-7, 1998
                                                                              11. Labrune P et al: Severe brain and limb defects with possible autosomal recessive inheritance: a series of six cases and review of the literature. Am J Med Genet. 73(2):144-9, 1997
                                                                              12. Florell SR et al: Aprosencephaly and cerebellar dysgenesis in sibs. Am J Med Genet. 63(4):542-8, 1996
                                                                              13. Acampora D et al: Forebrain and midbrain regions are deleted in Otx2-/- mutants due to a defective anterior neuroectoderm specification during gastrulation. Development. 121(10):3279-90, 1995
                                                                              14. Harris CP et al: Atelencephalic aprosencephaly. J Child Neurol. 9(4):412-6, 1994
                                                                              15. Brown S et al: Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet. 45(1):52-9, 1993
                                                                              16. Goldsmith CL et al: Mosaic r(13) in an infant with aprosencephaly. Am J Med Genet. 47(4):531-3, 1993
                                                                              17. Norman AM et al: Hypoplastic thumbs and hydranencephaly: a new syndrome? Clin Dysmorphol. 1(2):121-3, 1992
                                                                              18. Kim TS et al: Aprosencephaly: review of the literature and report of a case with cerebellar hypoplasia, pigmented epithelial cyst and Rathke's cleft cyst. Acta Neuropathol (Berl). 79(4):424-31, 1990
                                                                              19. Townes PL et al: XK aprosencephaly and anencephaly in sibs. Am J Med Genet. 29(3):523-8, 1988
                                                                              20. Siebert JR et al: Atelencephalic microcephaly in a 21-week human fetus. Teratology. 34(1):9-19, 1986
                                                                              21. Martin RA et al: A review and case report of aprosencephaly and the XK aprosencephaly syndrome. Am J Med Genet. 11(3):369-71, 1982
                                                                              22. Iivanainen M et al: Atelencephaly. Dev Med Child Neurol. 19(5):663-8, 1977