Anaesthesia and orphan disease: sedation with ketofol in two patients with Joubert syndrome
No abstract available (Source: European Journal of Anaesthesiology)
Source: European Journal of Anaesthesiology - October 4, 2016 Category: Anesthesiology Tags: Correspondence Source Type: research
Joubert Syndrome: Classic Sonographic Signs at 19 Weeks of Gestation
AbstractJoubert syndrome is a rare condition with an incidence of 1:100,000. It has primarily an autosomal recessive inheritance pattern. It is characterized by episodic hyperpnea, ataxia, hypotonia, abnormal eye movements, and varying degrees of intellectual disability. The causative genetic mutations are identifiable in only 50 % of the cases. Hence, neuroimaging in correlation with clinical features form the mainstay in the diagnosis of this entity. The classic imaging appearance is the ‘molar-tooth’ sign in the midbrain which was first described on MRI. The fourth ventricle has a bat-wing or umbrella-like configu...
Source: Journal of Fetal Medicine - September 7, 2016 Category: Perinatology & Neonatology Source Type: research
P30.08: Severe ventriculomegaly, cerebellar hypoplasia and molar tooth sign in a case of Joubert syndrome
(Source: Ultrasound in Obstetrics and Gynecology)
Source: Ultrasound in Obstetrics and Gynecology - September 7, 2016 Category: Radiology Authors: M. Cialdella, G. Volpe, P. Capuano, V. D'Addario Tags: Abstracts Source Type: research
OP05.01: The fourth ventricle index as a screening tool for Joubert syndrome and related disorders
(Source: Ultrasound in Obstetrics and Gynecology)
Source: Ultrasound in Obstetrics and Gynecology - September 7, 2016 Category: Radiology Authors: S. Leshem Shulevitz, K.K. Haratz, T. Lerman ‐Sagie, Z. Leibovitz, D. Lev, Y. Shalev, M. Tamarkin, L. Gindes Tags: Abstracts Source Type: research
Coats-like retinopathy in Joubert syndrome
Publication date: August 2016 Source:Journal of American Association for Pediatric Ophthalmology and Strabismus, Volume 20, Issue 4 Author(s): Marwan A. Abouammoh, Salwa K. Al-Shibani, Abdulrahman Alhawwas, Thomas M. Bosley An 11-year-old girl with Joubert syndrome was evaluated for a dim red reflex in her left eye. Fundus examination revealed retinal telangiectasias bilaterally compatible with Coats-like pigmentary retinopathy, a phenomenon not previously reported in Joubert syndrome. Coats-like exudative retinopathy may result in permanent visual loss if left untreated. The exudative retinopathy was controlled afte...
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus - September 1, 2016 Category: Opthalmology Source Type: research
