Joubert syndrome with multiple pituitary hormone deficiency. Issue 4 (23rd April 2019)

• Record Type: Journal Article
• Authors: Akcan, Nese; Bas, Firdevs; Poyrazoglu, Sukran; Bundak, Ruveyde
• Is Part Of: BMJ case reports. Volume 12:Issue 4(2019)
• Publication Date: 2019-04-23
• Subjects: pituitary disorders -- neuroendocrinology -- neuroimaging; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2018-229016
• Languages: English
• ISSNs: 1757-790X

Abstract

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.