Rare association of Hirschsprung's disease and Joubert syndrome

Ozyurek H., Kayacik O. E., Gungor O., Karagöz F.

EUROPEAN JOURNAL OF PEDIATRICS, cilt.167, sa.4, ss.475-477, 2008 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 167 Sayı: 4
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1007/s00431-007-0504-1
  • Dergi Adı: EUROPEAN JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.475-477
  • Anahtar Kelimeler: Joubert syndrome, Hirschsprung's disease, neurocristopathy, CONGENITAL-ANOMALIES
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

We present the case of an 18-month-old boy with Hirschsprung's disease who had psychomotor retardation. His clinical and radiological findings were consistent with Joubert syndrome. The patient was the second case to show the association between Hirschsprung's disease and Joubert syndrome in the literature. As in our case, association of these entities by chance seems to be unlikely. Genetic analysis of new Joubert syndrome and Hirschsprung's disease patients may identify the candidate genes.