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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
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.
Area of Science:
- Pediatric Neurology
- Genetics
- Endocrinology
Background:
- Joubert syndrome (JS) is characterized by developmental delay, congenital anomalies, and midbrain-hindbrain malformations.
- Multiple pituitary hormone deficiency (MPHD) is a rare complication associated with JS.
- Previous literature documents a limited number of JS cases presenting with MPHD.
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