A Brief Focus on Joubert Syndrome and Related Acute Complications
Autor: | Sara Manti, Eloisa Gitto, Ida Ceravolo, Alessio Mancuso, Antonio Ceravolo, Annamaria Salpietro, Giovanni Farello, Roberto Chimenz, Giulia Iapadre, Francesco Battaglia, Caterina Cuppari |
---|---|
Rok vydání: | 2023 |
Předmět: | |
Zdroj: | Journal of Pediatric Neurology. 21:003-007 |
ISSN: | 1875-9041 1304-2580 |
DOI: | 10.1055/s-0042-1760240 |
Popis: | 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. |
Databáze: | OpenAIRE |
Externí odkaz: |