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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)… Click to show full abstract
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.
Keywords:
hormone deficiency;
joubert syndrome;
pituitary hormone;
multiple pituitary
Journal Title: BMJ Case Reports
Year Published: 2019
Link to full text (if available)
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Journal Title: BMJ Case Reports
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!