Abstract
An 6-month-old boy was admitted to the hospital with hypotonia, hyperpnoeic and apnoeic episodes, and abnormal eye movements. Cranial MRI revealed prominent superior cerebellar peduncles with dysgenesis of the vermis and a deep interpeduncular fossa, resulting in the characteristic image of a 'molar tooth' malformation of the brainstem. This is a classical sign of Joubert syndrome
Translated title of the contribution | A neonate with growth retardation |
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Original language | Dutch |
Pages (from-to) | A1561 |
Number of pages | 1 |
Journal | Nederlands Tijdschrift voor Geneeskunde |
Volume | 155 |
Issue number | 9 |
Publication status | Published - 2011 |