In 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.
Chorioretinal coloboma and Joubert syndrome: a nonrandom association.
CLEMENTI, MAURIZIO;
1984
Abstract
In 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.
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