Joubert’s syndrome and prenatal hydrocephalus
| Autor: | Joseph F. Pasternak, Barbara L. Trommer, Michael T. Gorey, Jeffrey S. Anderson |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Pathology
medicine.medical_specialty Prenatal diagnosis Fourth ventricle Tachypnea Joubert syndrome Dysgenesis Developmental Neuroscience Prenatal Diagnosis medicine Humans Abnormalities Multiple business.industry Infant Newborn Brain Syndrome Anatomy medicine.disease eye diseases Hypotonia Hydrocephalus Neurology Pediatrics Perinatology and Child Health Cerebellar vermis Female Neurology (clinical) medicine.symptom business |
| Zdroj: | Pediatric Neurology. 20:403-405 |
| ISSN: | 0887-8994 |
| DOI: | 10.1016/s0887-8994(99)00008-9 |
| Popis: | Joubert's syndrome is an autosomal-recessive condition characterized by dysgenesis of the cerebellar vermis, hypotonia, developmental delay, a respiratory pattern of alternating tachypnea and apnea, and abnormal eye movements. Radiologic findings include a midline cerebellar cleft in place of the vermis and a characteristic shape of the fourth ventricle. Prenatal hydrocephalus has been proposed as a possible etiology for the cerebellar abnormalities but has not previously been described in association with this syndrome. The authors report a patient with clinical and radiographic features consistent with Joubert's syndrome who presented with congenital hydrocephalus. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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