JOUBERT SYNDROME: CLINICAL AND POLYGRAPHIC OBSERVATIONS IN A FURTHER CASE
- 1 May 1981
- journal article
- research article
- Published by Georg Thieme Verlag KG in Neuropediatrics
- Vol. 12 (02) , 181-191
- https://doi.org/10.1055/s-2008-1059650
Abstract
The clinical, radiological (computerized tomography) and polygraphic findings in a patient with Joubert Syndrome are described. The female presented is the product of consanguineous parents and a sibling of a previously reported infant. In addition to the well-known episodic tachypnea in an awake state, representing the clinical hallmark of this syndrome, this child also had bouts of tachypnea while asleep. Interestingly enough, these were confined only to non-REM [rapid eye movement] sleep.This publication has 8 references indexed in Scilit:
- Familial communicating hydrocephalus, posterior cerebellar agenesis, mega cisterna magna, and port-wine neviJournal of Neurosurgery, 1979
- Periodic Breathing in Infants With Near-Miss Sudden Infant Death SyndromePediatrics, 1979
- Computed Tomography in Cerebellar Atrophic ProcessesRadiology, 1979
- Arterial oxygen tension during active and quiet sleep in the normal neonateThe Journal of Pediatrics, 1979
- Uncommon Syndromes of Cerebellar Vermis Aplasia. I: Joubert SyndromeDevelopmental Medicine and Child Neurology, 1978
- Vermian agenesis and unsegmented midbrain tectumJournal of Neurosurgery, 1977
- Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar VermisNeuropediatrics, 1977
- Ventilation and sleep states in newborn infantsThe Journal of Pediatrics, 1976