Distinctive Skeletal and Facial Features
Alagille Syndrome often presents with a unique "clinical face" and skeletal markers that help doctors reach a diagnosis before genetic results are even returned.
Butterfly Vertebrae: This is a classic finding on a spinal X-ray where the bones of the spine have a cleft or wing-like shape. While it looks unusual, it rarely causes pain or back problems.
Facial Phenotype: Children often have a prominent, broad forehead, deep-set eyes, a straight nose, and a small, pointed chin, giving the face a somewhat "triangular" appearance.
Posterior Embryotoxon: An eye finding where a visible white ring appears on the edge of the cornea. It does not affect vision but is a key diagnostic marker for the syndrome.
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