Prenatal diagnosis of Joubert syndrome: a case report

Aslan H., Ulker V., Gulcan E. M., Numanoglu C., Gul A., Agar M., ...More

PRENATAL DIAGNOSIS, vol.22, no.1, pp.13-16, 2002 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 22 Issue: 1
  • Publication Date: 2002
  • Doi Number: 10.1002/pd.220
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.13-16
  • Keywords: Joubert syndrome, prenatal diagnosis, cerebellar vermian defects
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No


Joubert syndrome is a rare, autosomal recessive condition, first described by Joubert in 1969. We present a case of Joubert syndrome from a consanguineous family in which, apart from the cerebellar vermis agenesis, ventriculomegaly, bilateral postaxial polydactyly of hands and right foot and micropenis, episodes of fetal breathing pattern with an increased respiratory rate were also demonstrated by prenatal ultrasound scan. At birth the infant showed an odd face and bilateral fleshy nodules of the tongue. He had an abnormal breathing pattern of alternating tachypnea and apnea. Cranial MRI showed molar tooth sign, hydrocephalus and Dandy-Walker malformation. fie had nystagmus, and electroretinography showed retinal dystrophy. Copyright (C) 2002 John Wiley Sons, Ltd.