We also review the etiology, imaging features, clinical symptoms, and diagnosis of JSRD. We describe a case of JS prenatally and Dandy-Walker malformation for the differential diagnosis based on ultrasonograms. Magnetic resonance imaging (MRI) is usually the first-choice diagnostic modality with typical brain images characterized by the molar tooth sign. Molecular genetics research contributes to disease prediction and genetic counseling.
After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and related disorders (JSRD). Except for X-linked inheritance, the high recurrence rate of a family is about 25%. Abstract Introduction: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes.
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