Bloemenkamp Daisy G M, Poll-The Bwee-Tien, Majoie Charles B
Meander Medisch Centrum, Amersfoort, the Netherlands.
Ned Tijdschr Geneeskd. 2011;155:A1561.
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.
一名6个月大的男婴因肌张力减退、呼吸急促和呼吸暂停发作以及异常眼动入院。头颅磁共振成像显示上小脑脚突出，蚓部发育不全，脚间窝加深，形成脑干“磨牙”畸形的特征性图像。这是乔伯特综合征的典型表现。
