Alagille syndrome

A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.

Coloboma

A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.


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PMID (PMCID)
6806523
 MIXED_SAMPLE Child
[Clinical picture and inheritance of ocular symptoms in arteriohepatic dysplasia (author's transl)].
Mayer U, Grosse KP.
Klin Monbl Augenheilkd. 1982;180(4):290-3.
Systematic examination of four children suffering from arteriohepatic dysplasia and of members of their families revealed with diminishing frequency, the following symptoms: icterus episcleralis, posterior embryotoxon, gray-yellowish precipitations in the retina, microphthalmos, corectopia with rudimentary coloboma of the iris, xanthomatosis retinae and atrophy of the optic nerve.