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Case Report
Neurology
A neonate with Joubert syndrome presenting with symptoms of Horner syndrome
Narae Lee, Sang-Ook Nam, Young Mi Kim, Yun-Jin Lee
Clin Exp Pediatr. 2016;59(Suppl 1):S32-S36.   Published online November 30, 2016

Joubert syndrome (JS) is characterized by the “molar tooth sign” (MTS) with cerebellar vermis agenesis, episodic hyperpnea, abnormal eye movements, and hypotonia. Ocular and oculomotor abnormalities have been observed; however, Horner syndrome (HS) has not been documented in children with JS. We present the case of a 2-month-old boy having ocular abnormalities with bilateral nystagmus, left-dominant bilateral ptosis, and unilateral...

Joubert syndrome with peripheral dysostosis - A case report of long term follow-up -
Jung Tae Kim, Sun Jun Kim, Chan-Uhng Joo, Soo Chul Cho, Dae-Youl Lee
Clin Exp Pediatr. 2007;50(3):315-318.   Published online March 15, 2007
This report describes the long-term follow-up of a 10-year-old female patient with Joubert syndrome with short stature and brachydactyly. She presented with hyperpnea alternated with hypopnea, uncontrolled jerking eye movements, and hypotonia during early infancy. She was diagnosed with Joubert syndrome based on clinical symptoms and typical MRI findings at 5 months of age. Abnormal ventilation and eye movements disappeared...
Erratum
A Case of Joubert Syndrome
Hye-Young Kim, Sun-Jun Kim, Jung-Soo Kim
Accepted January 1, 1970  
Joubert syndrome is frequently associated with developmental delay and mental retardation, neonatal tachypnea and apnea, abnormal eye movements, and ataxia. It is inherited by an autosomal recessive trait. The most significant and constant neuropathological finding is partial or total agenesis of cerebellar vermis. Absence of the vermis results in a triangular-shaped mid-fourth ventricle and a "bat-wing" shaped fourth ventricle superiorly. The superior cerebellar peduncles...
Original Article
Clinical Study of Symptoms and Various Anomalies of Patients with Joubert Syndrome
Hang Bo Jeong, Se Hee Hwang, Ki Joong Kim, Yong Seung Hwang, Seung Cheol Kim, In-One Kim
Clin Exp Pediatr. 1997;40(3):385-392.   Published online March 15, 1997
Purpose : Joubert syndrome is known tobean autosomal recessive disorder characterized by cerebellar vermian dysgenesis with many symptoms and variety of other malformations. We studied the relevant symptoms and various malformations of seven patients diagnosed as Joubert syndrome at our institution. Methods : Seven children with cerebellarvermian dysgenesis consistent with Joubert syndrome were included in ourstudy. Each child was diagnosed at the Seoul National University Children's...