[Ocular anomalies in Alagille's syndrome].

Abstract excerpt

The authors examine a family, in which two brothers were affected by a severe expression of arteriohepatic dysplasia (ADH, Alagille syndrome), an autosomal dominant disorder associated with intrahepatic cholestasis, characteristic facial appearance, congenital embryotoxon. One of these two cases presented a keratoconus and both had retinal pigmentary degeneration with pigment clumping. The father showed a benign...

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