Joubert’s syndrome and prenatal hydrocephalus
✍ Scribed by Jeffrey S Anderson; Michael T Gorey; Joseph F Pasternak; Barbara L Trommer
- Book ID
- 117592061
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 113 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0887-8994
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## Abstract We describe the prenatal imaging of 2 fetuses at risk for Joubert syndrome (JS). In the first case, the mother, who had previously given birth to a child with JS, was referred to our hospital at 17 weeks' gestation. The prenatal diagnosis of JS complicated with an encephalocele was made
A patient with serologically proven congenital cytomegalovirus (CMV) infection is described with periventricular calcifications on CT. The condition was associated with the typical cerebellar changes of clinicoradiologically proven Joubert's syndrome. Although this may be a chance association only,
Joubert's syndrome is a rare developmental defect of the cerebellar vermis associated with episodic hyperpnea and apnea, abnormal eye movements, and mental retardation. The condition is usually diagnosed clinically during the neonatal period. This article reports nine patients with the syndrome (six
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