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Chorioretinal coloboma and Joubert syndrome. Replyto the Editor.
No full textThe table presented by Lindhout a n d Barthis obtained from an incomplete updating of the literature; recently eight more families with one or more a ffected members we re published. In addition , the denominator to be used to study the: clinical features is the number of patients in whom the findings reported, whereas for the analysis of the parental consanguinity and of the sibs affected the number of the families studied has to be considered
Acute-onset transient hydrocephalus after suspension of ACTH therapy for infantile spasms: a case report.
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Critical ilness myopathy associated with prolonged neuromuscular blockage in a 22-month-old female
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Chorioretinal coloboma and Joubert syndrome: a nonrandom association.
No full textIn 1969 MARIE JOUBERT described a syndrome characterized by episodic hyperpnea, abnormal eye movments, ataxia, and mental and motor retardation associated with cerebellar vermis agenesis. Additional patients were later reported. In 1980 Lindhout et a l . described a patient with Joubert syndrome with typical bilatera chorioretinal coloboma and hypothesized a nonrandom association. We report a nother patient with Joubert synd rome with the same ocular defect
La leucoencefalopatia posteriore reversibile: correlazioni cliniche e neuroradiologiche in un nuovo caso
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