Joubert syndrome with multiple pituitary hormone deficiency.

Akcan N., Bas F., Poyrazoglu Ş., Bundak R.

BMJ case reports, cilt.12, 2019 (ESCI) identifier identifier identifier

  • 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.