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Research ArticlePediatrics

Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders

S.N. Saleem and M.S. Zaki
American Journal of Neuroradiology March 2010, 31 (3) 424-429; DOI: https://doi.org/10.3174/ajnr.A1867
S.N. Saleem
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M.S. Zaki
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References

  1. 1.↵
    1. Joubert M,
    2. Eisenring JJ,
    3. Andermann F
    . Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation. Neurology 1968;18:302–03
    PubMed
  2. 2.↵
    1. Maria BL,
    2. Boltshauser E,
    3. Palmer SC,
    4. et al
    . Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 1999;14:583–50
    Abstract/FREE Full Text
  3. 3.↵
    1. Chance PF,
    2. Cavalier L,
    3. Satran D,
    4. et al
    . Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol 1999;14:660–66
    Abstract/FREE Full Text
  4. 4.↵
    1. Valente EM,
    2. Marsh SE,
    3. Castori M,
    4. et al
    . Distinguishing the four genetic causes of Joubert syndrome-related disorders. Ann Neurol 2005;57:513–19
    CrossRefPubMedWeb of Science
  5. 5.↵
    1. Maria BL,
    2. Quisling RG,
    3. Rosainz LC,
    4. et al
    . Molar tooth sign in Joubert syndrome: clinical, radiological, and pathological significance. J Child Neurol 1999;14:368–76
    Abstract/FREE Full Text
  6. 6.↵
    1. Quisling RG,
    2. Barkovich AJ,
    3. Maria BL
    . Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome. J Child Neurol 1999;14:628–35
    Abstract/FREE Full Text
  7. 7.↵
    1. Gleeson JG,
    2. Keeler LC,
    3. Parisi MA,
    4. et al
    . Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet 2004;125A:125–34; discussion 117
  8. 8.↵
    1. Adamsbaum C,
    2. Moutard ML,
    3. Andre C,
    4. et al
    . MRI of the fetal posterior fossa. Pediatr Radiol 2005;35:124–40
    CrossRefPubMedWeb of Science
  9. 9.↵
    1. Alorainy IA,
    2. Sabir S,
    3. Siedahmed MZ,
    4. et al
    . Brain stem and cerebellar findings in Joubert syndrome. J Comput Assist Tomogr 2006;30:116–21
    CrossRefPubMedWeb of Science
  10. 10.↵
    1. Steinlin M,
    2. Schmid M,
    3. Landau K,
    4. et al
    . Follow-up in children with Joubert's syndrome. Neuropediatrics 1997;28:204–11
    CrossRefPubMedWeb of Science
  11. 11.↵
    1. Hodgkins PR,
    2. Harris CM,
    3. Shawkat FS,
    4. et al
    . Joubert syndrome: long term follow-up. Dev Med Child Neurol 2004;46:694–99
    PubMedWeb of Science
  12. 12.↵
    1. Hafez M,
    2. El-Tahan H,
    3. Awadalla M,
    4. et al
    . Consanguineous matings in the Egyptian population. J Med Genet 1983;20:58–60
    Abstract/FREE Full Text
  13. 13.↵
    1. Zaki MS,
    2. Abdel-Aleem A,
    3. Abdel-Salam G,
    4. et al
    . The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology 2008;70:556–65
    Abstract/FREE Full Text
  14. 14.↵
    1. Harper PS
    . Genetic counseling and prenatal diagnosis. Br Med Bull 1983;39:302–09
    FREE Full Text
  15. 15.↵
    1. Baala L,
    2. Audollent S,
    3. Martinovic J,
    4. et al
    . Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet 2007;81:170–79
    CrossRefPubMedWeb of Science
  16. 16.↵
    1. Campbell S,
    2. Tsannatos C,
    3. Pearce JM
    . The prenatal diagnosis of Joubert's syndrome of familial agenesis of the cerebellar vermis. Prenat Diagn 1984;4:391–95
    CrossRefPubMedWeb of Science
  17. 17.↵
    1. Anderson JS,
    2. Gorey MT,
    3. Pasternak JF,
    4. et al
    . Joubert's syndrome and prenatal hydrocephalus. Pediatr Neurol 1999;20:403–05
    CrossRefPubMed
  18. 18.↵
    1. Ni Scanaill S,
    2. Crowley P,
    3. Hogan M,
    4. et al
    . Abnormal prenatal sonographic findings in the posterior cranial fossa: a case of Joubert's syndrome. Ultrasound Obstet Gynecol 1999;13:71–74
    CrossRefPubMed
  19. 19.↵
    1. Aslan H,
    2. Ulker V,
    3. Gulcan EM,
    4. et al
    . Prenatal diagnosis of Joubert syndrome: a case report. Prenat Diagn 2002;22:13–16
    CrossRefPubMedWeb of Science
  20. 20.↵
    1. Nyberg D,
    2. McGahan J,
    3. Pretorius D,
    4. et al.
    1. Nyberg D,
    2. Jeanty P,
    3. Glass I
    . Syndromes and multiple anomaly conditions. In: Nyberg D, McGahan J, Pretorius D, et al., eds. Diagnostic Imaging of Fetal Anomalies. Philadelphia: Lippincott Williams & Wilkins; 2003:133–220
  21. 21.↵
    1. Hubbard AM,
    2. Simon EM
    . Fetal imaging. Magn Reson Imaging Clin N Am 2002;10:389–408
    CrossRefPubMed
  22. 22.↵
    1. Poutamo J,
    2. Vanninen R,
    3. Partanen K,
    4. et al
    . Magnetic resonance imaging supplements ultrasonographic imaging of the posterior fossa, pharynx and neck in malformed fetuses. Ultrasound Obstet Gynecol 1999;13:327–34
    CrossRefPubMedWeb of Science
  23. 23.↵
    1. Guibaud L
    . Practical approach to prenatal posterior fossa abnormalities using MRI. Pediatr Radiol 2004;34:700–11
    PubMed
  24. 24.↵
    1. Doherty D,
    2. Glass IA,
    3. Siebert JR,
    4. et al
    . Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenat Diagn 2005;25:442–47
    CrossRefPubMedWeb of Science
  25. 25.↵
    1. Fluss J,
    2. Blaser S,
    3. Chitayat D,
    4. et al
    . MTS in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. J Child Neurol 2006;21:320–24
    Abstract/FREE Full Text
  26. 26.↵
    1. Grossman R,
    2. Hoffman C,
    3. Mardor Y,
    4. et al
    . Quantitative MRI measurements of human fetal brain development in utero. Neuroimage 2006;33:463–70
    CrossRefPubMed
  27. 27.↵
    1. Chang CH,
    2. Chang FM,
    3. Yu CH,
    4. et al
    . Three-dimensional ultrasound in the assessment of fetal cerebellar transverse and antero-posterior diameters. Ultrasound Med Biol 2000;26:175–82
    CrossRefPubMedWeb of Science
  28. 28.↵
    1. Garel C,
    2. Chantrel E,
    3. Elmaleh M,
    4. et al
    . Fetal MRI: normal gestational landmarks for cerebral biometry, gyration and myelination. Childs Nerv Syst 2003;19:422–25
    CrossRefPubMedWeb of Science
  29. 29.↵
    1. Ivarsson SA,
    2. Bjerre I,
    3. Brun A,
    4. et al
    . Joubert syndrome associated with Leber amaurosis and multicystic kidneys. Am J Med Genet 1993;45:542–47
    CrossRefPubMedWeb of Science
  30. 30.↵
    1. Van Drop DB,
    2. Palan A,
    3. Kwee ML,
    4. et al
    . Joubert syndrome: clinical and pathological description of an affected male and a female fetus from the sibship. Am J Med Genet 1991;40:100–04
    CrossRefPubMedWeb of Science
  31. 31.↵
    1. Van Zalen-Sprock RM,
    2. van Vugt JM,
    3. van Geijn HP
    . First-trimester sonographic detection of neurodevelopmental abnormalities in some single-gene disorders. Prenat Diagn 1996;16:199–202
    CrossRefPubMed
  32. 32.↵
    1. Wang P,
    2. Chang FM,
    3. Chang CH,
    4. et al
    . Prenatal diagnosis of Joubert syndrome complicated with encephalocele using two-dimensional and three-dimensional ultrasound. Ultrasound Obstet Gynecol 1999;14:360–62
    CrossRefPubMedWeb of Science
  33. 33.↵
    1. Reynders CS,
    2. Pauker SP,
    3. Benacerraf BR
    . First trimester isolated fetal nuchal lucency: significance and outcome. J Ultrasound Med 1997;16:101–05
    Abstract
  34. 34.↵
    1. Souka AP,
    2. Snijders RJM,
    3. Novakov A,
    4. et al
    . Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10–14 weeks of gestation. Ultrasound Obstet Gynecol 1998;11:391–400
    CrossRefPubMedWeb of Science
  35. 35.↵
    1. Aslan H,
    2. Gungorduk K,
    3. Yildirim G,
    4. et al
    . Prenatal ultrasonographic features of Joubert syndrome. J Clin Ultrasound 2008;36:576–80
    CrossRefPubMed
  36. 36.↵
    1. Carroll SGM,
    2. Porter H,
    3. Abdel-Fattah S,
    4. et al
    . Correlation of prenatal ultrasound diagnosis and pathologic findings in fetal brain abnormalities. Ultrasound Obstet Gynecol 2000;16:149–53
    CrossRefPubMedWeb of Science
  37. 37.↵
    1. Pilu G,
    2. Segata M,
    3. Ghi T,
    4. et al
    . Diagnosis of midline anomalies of the fetal brain with the three-dimensional median view. Ultrasound Obstet Gynecol 2006;27:522–29
    CrossRefPubMedWeb of Science
  38. 38.↵
    1. Pilu G,
    2. Visentin A,
    3. Valeri B
    . The Dandy-Walker complex and fetal sonography. Ultrasound Obstet Gynecol 2000;16:115–17
    CrossRefPubMed
  39. 39.↵
    1. Limperopoulos C,
    2. Robertson RL Jr..,
    3. Khwaja OS,
    4. et al
    . How accurately does current fetal imaging identify posterior fossa anomalies? Am J Roentgenol 2008;190:1637–43
    CrossRefPubMedWeb of Science
  40. 40.↵
    1. Harper T,
    2. Fordham LA,
    3. Wolfe HM
    . The fetal Dandy Walker complex: associated anomalies, perinatal outcome and postnatal imaging. Fetal Diagn Ther 2007;22:277–81
    CrossRefPubMedWeb of Science
  41. 41.↵
    1. Tilea B,
    2. Delezoide AL,
    3. Khung-Savatosvski S,
    4. et al
    . Comparison between magnetic resonance imaging and fetopathology in the evaluation of fetal posterior fossa non-cystic abnormalities. Ultrasound Obstet Gynecol 2007;29:651–59
    CrossRefPubMed
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Cite this article
S.N. Saleem, M.S. Zaki
Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders
American Journal of Neuroradiology Mar 2010, 31 (3) 424-429; DOI: 10.3174/ajnr.A1867

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Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders
S.N. Saleem, M.S. Zaki
American Journal of Neuroradiology Mar 2010, 31 (3) 424-429; DOI: 10.3174/ajnr.A1867
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