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Joubert syndrome in two sibs and the differential diagnosis of cerebellar vermian dysgenesis

Year 1997, Volume: 10 Issue: 3, 149 - 153, 01.07.1997

G. Alper S. Kahveci

Abstract

We present two siblings with Joubert syndrome. Malformation of the cerebellar vermis, abnormal eye movements, developmental delay and retinitis pigmentosa are described. The differential diagnosis of vermian dysgenesis is discussed. At present the genes for Joubert syndrome and the overlap syndromes are not identified and the differential diagnosis of these syndromes is not possible by molecular genetic methods. Therefore the clinical and neuroradiological overlap with other syndromes should be recognized.

Keywords

Hypo/aplasia of cerebellar vermis Joubert syndrome Overlap syndromes

References

  • Joubert M, Eisenring M, Robb JP, Andermann F. Familial agenesis of cerebellar vermis, neurology 1969;19:813-825

Year 1997, Volume: 10 Issue: 3, 149 - 153, 01.07.1997

G. Alper S. Kahveci

Abstract

References

  • Joubert M, Eisenring M, Robb JP, Andermann F. Familial agenesis of cerebellar vermis, neurology 1969;19:813-825
There are 1 citations in total.

Details

Subjects Clinical Sciences
Journal Section Review Makaleler
Authors

G. Alper This is me

S. Kahveci This is me

Publication Date July 1, 1997
Published in Issue Year 1997 Volume: 10 Issue: 3

Cite

APA Alper, G., & Kahveci, S. (1997). Joubert syndrome in two sibs and the differential diagnosis of cerebellar vermian dysgenesis. Marmara Medical Journal, 10(3), 149-153.
AMA Alper G, Kahveci S. Joubert syndrome in two sibs and the differential diagnosis of cerebellar vermian dysgenesis. Marmara Med J. July 1997;10(3):149-153.
Chicago Alper, G., and S. Kahveci. “Joubert Syndrome in Two Sibs and the Differential Diagnosis of Cerebellar Vermian Dysgenesis”. Marmara Medical Journal 10, no. 3 (July 1997): 149-53.
EndNote Alper G, Kahveci S (July 1, 1997) Joubert syndrome in two sibs and the differential diagnosis of cerebellar vermian dysgenesis. Marmara Medical Journal 10 3 149–153.
IEEE G. Alper and S. Kahveci, “Joubert syndrome in two sibs and the differential diagnosis of cerebellar vermian dysgenesis”, Marmara Med J, vol. 10, no. 3, pp. 149–153, 1997.
ISNAD Alper, G. - Kahveci, S. “Joubert Syndrome in Two Sibs and the Differential Diagnosis of Cerebellar Vermian Dysgenesis”. Marmara Medical Journal 10/3 (July 1997), 149-153.
JAMA Alper G, Kahveci S. Joubert syndrome in two sibs and the differential diagnosis of cerebellar vermian dysgenesis. Marmara Med J. 1997;10:149–153.
MLA Alper, G. and S. Kahveci. “Joubert Syndrome in Two Sibs and the Differential Diagnosis of Cerebellar Vermian Dysgenesis”. Marmara Medical Journal, vol. 10, no. 3, 1997, pp. 149-53.
Vancouver Alper G, Kahveci S. Joubert syndrome in two sibs and the differential diagnosis of cerebellar vermian dysgenesis. Marmara Med J. 1997;10(3):149-53.