Alagille syndrome associated with total anomalous pulmonary venous connection and severe xanthomas: A case report

Figure 1 The patient shows characteristic faces of Alagille syndrome: Prominent forehead, deep-set eyes, mild hypertelorism, pointed chin, and saddle shape nose with a bulbous tip. A: Front image; B: Side image.

Figure 2 Posterior embryotoxon. A: Posterior embryotoxon in left eye; B: Posterior embryotoxon in right eye. L: Left; R: Right.

Figure 3 X-ray and computed tomography examination. A: X-ray didn’t discover obvious skeletal deformities; B: Chest computed tomography clearly showed that butterfly vertebra at the seventh thoracic vertebrae.

Figure 4 The classic hemodynamic features of total anomalous pulmonary venous connection type I. LIV: Left innominate vein; VV: Vertical vein; SVC: Superior vena cava.

Figure 5 Gene analysis results of the family. A: Next generation sequencing result of the patient; B-D: Sanger sequencing results of the patient, the mother and the father.

Figure 6 Xanthomas seen in the surface of hands and feet. A and B: Hands; C: Feet.