Alagille Syndrome Associated with Xerophthalmia

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Alagille Syndrome Associated with Xerophthalmia

PURPOSE To report the occurrence of xerophthalmia and keratomalacia in a patient with Alagille syndrome. METHODS The patient's record and relevant literature were reviewed. RESULTS A 3-year-old boy with Alagille syndrome was examined at our institution due to severe bilateral ocular irritation. A corneal ulcer and keratomalacia were found in the right eye and severe dryness with corneal opa...

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Alagille syndrome associated with myelinated retinal nerve fibers.

PURPOSE Alagille syndrome is frequently associated with optic disc anomalies. This is the first report of a patient with Alagille syndrome and myelinated retinal nerve fibers. METHODS A 5-year-old female patient was referred to the Centre for Ophthalmology before a liver transplantation. Ocular examinations including slit lamp examination and funduscopy as well as anterior segment and fundus ...

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Alagille Syndrome: a Review

Alagille Syndrome (AGS) is a genetically determined multisystem disorder affecting liver, hearth, eyes, skeleton and facies, less commonly kidney and CNS. The prognosis depends on the severity of the associated anomalies. The liver pathology plays a central role in that most clinical complications are due to long standing cholestasis as a consequence of lack of bile excretion secondary to pauci...

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Alagille syndrome: clinical perspectives

Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular ab...

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Williams syndrome presenting with findings consistent with Alagille syndrome

Conjugated hyperbilirubinemia, posterior embryotoxon, and vertebral anomalies are not features of William syndrome (WS). We herein report a preterm infant who presented with features suggestive of Alagille syndrome, but microarray showed findings consistent with WS. This further extends the phenotype of WS and emphasizes the need for microarray analysis.

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ژورنال

عنوان ژورنال: Case Reports in Ophthalmology

سال: 2013

ISSN: 1663-2699

DOI: 10.1159/000357642