Joubert syndrome with multiple pituitary hormone deficiency.
BMJ case reports, cilt.12, 2019 (ESCI, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 12
- Basım Tarihi: 2019
- Doi Numarası: 10.1136/bcr-2018-229016
- Dergi Adı: BMJ case reports
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
- Anahtar Kelimeler: pituitary disorders, neuroendocrinology, neuroimaging, GENE, RPGRIP1L
- İstanbul Üniversitesi Adresli: Evet
Özet
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.