A Brief Focus on Joubert Syndrome and Related Acute Complications
JOURNAL OF PEDIATRIC NEUROLOGY(2023)
摘要
Joubert syndrome (JS) and related disorders are a group of congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign, a complex midbrain-hindbrain malformation. Moreover, JS may be associated with multiorgan involvement, mainly nephronophthisis, hepatic fibrosis, retinal dystrophy, and other abnormalities with both inter- and intra-familial variability. Therefore, these patients should be followed by both diagnostic protocol and multidisciplinary approach to assess multiorgan involvement. Here, we briefly summarize the possible complications in patients with JS.
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关键词
emergencies,Joubert syndrome,multiorgan involvement
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