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

Yıl 1997, Cilt: 10 Sayı: 3, 149 - 153, 01.07.1997

G. Alper S. Kahveci

Öz

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.

Anahtar Kelimeler

Hypo/aplasia of cerebellar vermis Joubert syndrome Overlap syndromes

Kaynakça

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

Yıl 1997, Cilt: 10 Sayı: 3, 149 - 153, 01.07.1997

G. Alper S. Kahveci

Öz

Kaynakça

  • Joubert M, Eisenring M, Robb JP, Andermann F. Familial agenesis of cerebellar vermis, neurology 1969;19:813-825
Toplam 1 adet kaynakça vardır.

Ayrıntılar

Konular Klinik Tıp Bilimleri
Bölüm Derleme
Yazarlar

G. Alper Bu kişi benim

S. Kahveci Bu kişi benim

Yayımlanma Tarihi 1 Temmuz 1997
Yayımlandığı Sayı Yıl 1997 Cilt: 10 Sayı: 3

Kaynak Göster

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. Temmuz 1997;10(3):149-153.
Chicago Alper, G., ve S. Kahveci. “Joubert Syndrome in Two Sibs and the Differential Diagnosis of Cerebellar Vermian Dysgenesis”. Marmara Medical Journal 10, sy. 3 (Temmuz 1997): 149-53.
EndNote Alper G, Kahveci S (01 Temmuz 1997) Joubert syndrome in two sibs and the differential diagnosis of cerebellar vermian dysgenesis. Marmara Medical Journal 10 3 149–153.
IEEE G. Alper ve S. Kahveci, “Joubert syndrome in two sibs and the differential diagnosis of cerebellar vermian dysgenesis”, Marmara Med J, c. 10, sy. 3, ss. 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 (Temmuz 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. ve S. Kahveci. “Joubert Syndrome in Two Sibs and the Differential Diagnosis of Cerebellar Vermian Dysgenesis”. Marmara Medical Journal, c. 10, sy. 3, 1997, ss. 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.