A 33-year-old pregnant woman of 9-week gestation was referred to our reproductive genetics clinic for counseling (Figure 1A). The 5-year-old proband (II-1) was born at full term with low birth weight (2,162 g). She was presented with jaundice in skin and sclera shortly after birth to the present (Figure 1B). Echocardiography showed an atrial septal defect. Other features include hepatosplenomegaly and curly hair (Figure 1B). Laboratory testing done at that time revealed raised cholestasis makers, including total bilirubin (TBIL) 231.1 mumol/L (normal range 5.1-17.1 mumol/L), direct bilirubin (DBIL) 187.6 mumol/L (normal range 0-6 mumol/L), total bile acid (TBA) 99.7 mumol/L (normal range 0-10 mumol/L), gamma-glutamyl transpeptidase (GGT) 174 IU/L (normal range 7-50 IU/L), aspartate aminotransferase (AST) 81 IU/L (normal range 0-40 IU/L), and alkaline phosphatase (ALP) 876 IU/L (normal range 42-383 IU/L). Further tests showed normal values of vitamin D, vitamin E, and prothrombin time (PT). The clinical features of the patient suggested a diagnosis of Alagille syndrome.