These features are usually not fully apparent until 5-10 years of age. The most common cardiovascular abnormality is isolated and nonprogressive pulmonary stenosis of the peripheral pulmonary vascular tree. Embryotoxin, a pigmentary material, accumulates in the inner aspects of the cornea near its junction with the iris. It is best observed with a slit lamp examination. Other clinical manifestations include growth retardation, renal abnormalities, mental retardation and voice changes.
Chronic cholestasis can lead to malabsorption of fat soluble vitamins due to lack of bile salts.
Vitamin D deficiency can result from this malabsorption as well being due to a deficiency of 25-hydroxylation secondary to destruction of liver parenchyma. Diagnosis of Alagille syndrome is made by liver biopsy and histological examination of the interlobular bile ducts. This syndrome can be transmitted in an autosomal dominant mode. Management includes a high energy diet with adequate protein intake. Fat soluble vitamins may need to be supplemented.