Orocraniofacial findings of a Pediatric Patient with Joubert Syndrome
Author:
Publisher
Jaypee Brothers Medical Publishing
Subject
Periodontics,Oral Surgery,Pediatrics, Perinatology, and Child Health,Orthodontics
Link
https://www.ijcpd.com/doi/pdf/10.5005/jp-journals-10005-1394
Reference15 articles.
1. 1. Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969 Sep;19(9):813-825.
2. 2. Brancati F, Dallapiccola B, Valente EM. Joubert syndrome and related disorders. Orphanet J Rare Dis 2010 Jul;5:20.
3. 3. Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, et al. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet 2006 Apr;43(4):334-339.
4. 4. Braddock SR, Henley KM, Maria BL. The face of Joubert syndrome: a study of dysmorphology and anthropometry. Am J Med Genet A 2007 Dec;143A(24):3235-3242.
5. 5. Maria BL, Hoang KB, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, Hove MT, Fennell EB, Booth-Jones M, Ringdahl DM, et al. “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997 Oct;12(7):423-430.
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