Joubert syndrome

Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

Micrognathia

Developmental hypoplasia of the mandible.


合計: 1

                       


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PMID (PMCID)
30625837
 OTHER
Anesthetic management for a pediatric patient with joubert syndrome: A case report.
Lee YS, Kim WY, Kim KG, Chang MS, Kim JH, Park YC.
Korean J Anesthesiol. 2009;57(1):96-99.
Joubert syndrome has been associated with various airway abnormalities such as a high and arched palate, a large or protruding tongue, laryngomalacia, a variable epiglottis and micrognathia.