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Joubert syndrome with multiple pituitary hormone deficiency.

Neşe AkcanFirdevs BasSukran PoyrazogluRuveyde Bundak
Published in: BMJ case reports (2019)
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.
Keyphrases
  • systematic review
  • growth hormone