Joubert syndrome with multiple pituitary hormone deficiency.
BMJ Case Rep
; 12(4)2019 Apr 23.
Article
in En
| MEDLINE
| ID: mdl-31015250
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pituitary Hormones
/
Retina
/
Cerebellum
/
Eye Abnormalities
/
Hormone Replacement Therapy
/
Kidney Diseases, Cystic
Type of study:
Diagnostic_studies
/
Etiology_studies
Limits:
Humans
/
Male
/
Newborn
Language:
En
Journal:
BMJ Case Rep
Year:
2019
Document type:
Article
Affiliation country:
Cyprus