Joubert syndrome with multiple pituitary hormone deficiency

Nese Akcan1, Firdevs Bas2, Sukran Poyrazoglu2

  • 1Pediatric Endocrinology, Near East University, Nicosia, Cyprus.

BMJ Case Reports
|April 25, 2019
PubMed
Summary

Joubert syndrome (JS) is a rare condition causing developmental delays and malformations. This report highlights an unusual newborn case of JS with multiple pituitary hormone deficiency (MPHD), emphasizing this rare association.

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