OBJECTIVE: Joubert syndrome (JS) and related disorders (JSRD) (OMIM #213300) are a group of developmental delay/multiple congenital anomalies syndromes in which the pathognomonic "the molar tooth sign" (MTS) is present, is caused by the defects in the structure or function of the primary cilium. Liver disease is observed in minority of JSRD, usually manifesting as congenital hepatic fibrosis (CHF). In this paper we report a child with JSRD in whom signs of portal hypertension and chronic liver disease appeared and in the follow-up nephrologic features were added to her clinical signs. CONCLUSIONS: The physicians must be aware of this disorder in the differential diagnosis of portal hypertension of unknown origin.
OBJECTIVE:Joubert syndrome (JS) and related disorders (JSRD) (OMIM #213300) are a group of developmental delay/multiple congenital anomalies syndromes in which the pathognomonic "the molar tooth sign" (MTS) is present, is caused by the defects in the structure or function of the primary cilium. Liver disease is observed in minority of JSRD, usually manifesting as congenital hepatic fibrosis (CHF). In this paper we report a child with JSRD in whom signs of portal hypertension and chronic liver disease appeared and in the follow-up nephrologic features were added to her clinical signs. CONCLUSIONS: The physicians must be aware of this disorder in the differential diagnosis of portal hypertension of unknown origin.
Authors: Stephanie F Wang; Tia J Kowal; Ke Ning; Euna B Koo; Albert Y Wu; Vinit B Mahajan; Yang Sun Journal: Genes (Basel) Date: 2018-12-04 Impact factor: 4.096