A neonate with Joubert syndrome presenting with symptoms of Horner syndrome |
Lee, Narae
(Department of Pediatrics, Pusan National University Yangsan Hospital, Pusan National University School of Medicine)
Nam, Sang-Ook (Department of Pediatrics, Pusan National University Yangsan Hospital, Pusan National University School of Medicine) Kim, Young Mi (Department of Pediatrics, Pusan National University Hospital) Lee, Yun-Jin (Department of Pediatrics, Pusan National University Yangsan Hospital, Pusan National University School of Medicine) |
1 | Joubert M, Eisenring JJ, Andermann F. Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation. Neurology 1968;18:302-3. |
2 | Maria BL, Hoang KB, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, et al. "Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997;12:423-30. DOI |
3 | Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 1999;14:583-90. DOI |
4 | Merritt L. Recognition of the clinical signs and symptoms of Joubert syndrome. Adv Neonatal Care 2003;3:178-86. DOI |
5 | Incecik F, Herguner MO, Altunbasak S, Gleeson JG. Joubert syndrome: report of 11 cases. Turk J Pediatr 2012;54:605-11. |
6 | Yachnis AT, Rorke LB. Neuropathology of Joubert syndrome. J Child Neurol 1999;14:655-9. DOI |
7 | Lee G, Kim EY, Sun KG, Na KH, Park SY, Kim KS, et al. A case of neonatal onset Joubert syndrome. J Korean Soc Neonatol 2004;11:230-5. |
8 | Jeong JY, Park SJ, Lee YJ, Kim HM, Park SK. A case of joubert syndrome associated with endstage renal disease and meningocele. J Korean Pediatr Soc 1999;42:1311-6. |
9 | Yang HK, Yu YS, Hwang JM. Joubert syndrome associated with leber's congenital amaurosis. J Korean Ophthalmol Soc 2008;49:1360-3. DOI |
10 | Jeong HB, Hwang SH, Kim KJ, Hwang YS, Kim SC, Kim IO. Clinical study of symptoms and various anomalies of patients with Joubert syndrome. J Korean Pediatr Soc 1997;40:385-92. |
11 | Hodgkins PR, Harris CM, Shawkat FS, Thompson DA, Chong K, Timms C, et al. Joubert syndrome: long-term follow-up. Dev Med Child Neurol 2004;46:694-9. |
12 | Karp N, Grosse-Wortmann L, Bowdin S. Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD): a case report and review of congenital heart defects reported in the human ciliopathies. Eur J Med Genet 2012;55:605-10. DOI |
13 | Valente EM, Brancati F, Dallapiccola B. Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet 2008;51:1-23. DOI |
14 | Cahill JA, Ross J. Eye on children: acute work-up for pediatric Horner's syndrome: case presentation and review of the literature. J Emerg Med 2015;48:58-62. DOI |
15 | Jeffery AR, Ellis FJ, Repka MX, Buncic JR. Pediatric Horner syndrome. J AAPOS 1998;2:159-67. DOI |