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[Joubert's syndrome].
Buissonnière RF, Storni V, Robain O, Ponsot G. Buissonnière RF, et al. Ann Pediatr (Paris). 1990 Mar;37(3):151-6. Ann Pediatr (Paris). 1990. PMID: 2190521 Review. French.
We report a new case of pathologically documented Joubert syndrome. A review of 35 published cases showed that this syndrome, first described by Joubert and Eisenring in 1969, is well individualized and exhibits consistent features, including attacks o …
We report a new case of pathologically documented Joubert syndrome. A review of 35 published cases showed that this syndrom …
Tectocerebellar dysraphia and occipital encephalocele associated with trisomy X: case report and review of the literature.
Goulart LC, Ferreira-Filho LA, da Silva MM, Carneiro ISB, Carneiro SS, Vilela-Filho O. Goulart LC, et al. Childs Nerv Syst. 2021 Oct;37(10):3257-3260. doi: 10.1007/s00381-020-04989-6. Epub 2021 Jan 6. Childs Nerv Syst. 2021. PMID: 33404715 Review.
INTRODUCTION: Tectocerebellar dysraphia (TCD) is a rare sporadic malformation associated with severe neurodevelopmental morbidity and high infant mortality. The presence of other ciliopathies worsens the prognosis. Joubert syndrome (JS) is a ciliopathy associated wi …
INTRODUCTION: Tectocerebellar dysraphia (TCD) is a rare sporadic malformation associated with severe neurodevelopmental morbidity and high i …