Joubert syndrome with multiple pituitary hormone deficiency.

Akcan N., Bas F., Poyrazoglu Ş., Bundak R.

BMJ case reports, vol.12, 2019 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 12
  • Publication Date: 2019
  • Doi Number: 10.1136/bcr-2018-229016
  • Journal Name: BMJ case reports
  • Journal Indexes: Emerging Sources Citation Index, Scopus
  • Keywords: pituitary disorders, neuroendocrinology, neuroimaging, GENE, RPGRIP1L


Joubert syndrome (JS) and JS-related disorders are a group of developmental delay, multiple congenital anomalies and complex midbrain-hindbrain malformations. A few cases of JS with multiple pituitary hormone deficiency (MPHD) have been reported in literature. Here, we presented an unusual presentation of JS in a newborn with MPHD. This case is intended to draw attention to the rare association of JS and MDPH by increasing the awareness of this syndrome.