Alagille syndrome is an autosomal dominant disorder associated with five major abnormalities: chronic cholestasis, characteristic facies (triangular facies with broad, prominent forehead and small, pointed chin, hypertelorism, deep-set eyes), ocular defect (e.g. posterior embryotoxon), congenital heart disease (e.g. peripheral pulmonary stenosis), vertebral anomaly. The most common vertebral anomaly is the butterfly vertebra, characterized by clefts of the vertebral body involving the thoracic spine (mid-lower) on plain radiograph. This anomaly is observed in up to 70% of all cases of Alagille syndrome, significantly more frequent than other causes of chronic cholestasis.

This case was submitted with supervision and input from:

Soni C Chawla, MD
Associate Professor
Department of Radiological Sciences
David Geffen School of Medicine at UCLA
Olive View - UCLA Medical Center