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European Journal of Radiology, 1994
To report five cases of the rare Joubert's syndrome.All five cases were studied by 1.0-Tesla MRI. All the patients showed typical clinical manifestations of Joubert's syndrome including neonatal respiratory abnormalities, developmental delay, ataxia, retinal atrophy and nystagmus.The T1WI of MRI showed characteristic MRI features of Joubert's syndrome ...
W C, Shen +5 more
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To report five cases of the rare Joubert's syndrome.All five cases were studied by 1.0-Tesla MRI. All the patients showed typical clinical manifestations of Joubert's syndrome including neonatal respiratory abnormalities, developmental delay, ataxia, retinal atrophy and nystagmus.The T1WI of MRI showed characteristic MRI features of Joubert's syndrome ...
W C, Shen +5 more
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American Journal of Medical Genetics Part A, 2017
Joubert syndrome (JS) is a rare, recessively inherited neurodevelopmental disorder characterized by a distinctive mid‐hindbrain malformation. Little is known about mortality in affected individuals. Identifying the timing and causes of death will allow for development of healthcare guidelines for families and providers and, thus, help to prolong and ...
Dempsey, Jennifer C +5 more
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Joubert syndrome (JS) is a rare, recessively inherited neurodevelopmental disorder characterized by a distinctive mid‐hindbrain malformation. Little is known about mortality in affected individuals. Identifying the timing and causes of death will allow for development of healthcare guidelines for families and providers and, thus, help to prolong and ...
Dempsey, Jennifer C +5 more
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Neuropathology of Joubert Syndrome
Journal of Child Neurology, 1999Very little documentation of the neuropathologic changes in Joubert syndrome exists. This paper presents a detailed postmortem neuropathologic study of a clinically and radiographically well-documented case of Joubert syndrome. In addition to aplasia of the cerebellar vermis and fragmentation of the dentate nuclei, there was marked dysplasia of ...
A T, Yachnis, L B, Rorke
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MR imaging of Joubert's syndrome
Computerized Medical Imaging and Graphics, 1995Joubert's syndrome is a rare developmental defect of the cerebellar vermis associated with episodic hyperpnea and apnea, abnormal eye movements, and mental retardation. The condition is usually diagnosed clinically during the neonatal period. This article reports nine patients with the syndrome (six males, three females; ages ranging from 2.5 to 9 yrs),
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Harefuah, 1996
Joubert syndrome was first described in 1969 and 100 cases have been published so far. It includes: partial or complete agenesis of the vermis, episodic hyperpnea, ataxia, a disorder of ocular movement and mental retardation. It is autosomal recessive and there are descriptions of families with involvement of multiple children, both boys and girls ...
E, Scheuer +4 more
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Joubert syndrome was first described in 1969 and 100 cases have been published so far. It includes: partial or complete agenesis of the vermis, episodic hyperpnea, ataxia, a disorder of ocular movement and mental retardation. It is autosomal recessive and there are descriptions of families with involvement of multiple children, both boys and girls ...
E, Scheuer +4 more
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Annales de pediatrie, 1990
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 of tachypnea alternating with respiratory pauses, abnormal ocular movements, severe psychomotor ...
R F, Buissonnière +3 more
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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 of tachypnea alternating with respiratory pauses, abnormal ocular movements, severe psychomotor ...
R F, Buissonnière +3 more
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Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders
Pediatric Neurology, 2020Shaik Mohammad Naushad +1 more
exaly
Joubert syndrome and Joubert syndrome-related disorders
2013Victoria Harrison, Andrea H. Németh
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