Abstract
Adams-Oliver syndrome (AOS) is a rare inherited disorder characterized by aplasia cutis congenita, cutis marmorata telangiectatica congenita, and terminal limb defects. Ocular associations have been rarely reported. We report a 6-month-old boy with AOS associated with refractory glaucoma, megalocornea, and anterior polar cataract. To our knowledge, this is the first case of glaucoma to be reported in association with AOS.
Copyright © 2024 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.
MeSH terms
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Cataract / congenital
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Cataract / diagnosis
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Ectodermal Dysplasia* / complications
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Ectodermal Dysplasia* / diagnosis
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Ectodermal Dysplasia* / genetics
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Eye Diseases, Hereditary
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Genetic Diseases, X-Linked
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Glaucoma* / complications
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Glaucoma* / congenital
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Glaucoma* / diagnosis
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Humans
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Infant
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Intraocular Pressure / physiology
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Limb Deformities, Congenital / diagnosis
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Limb Deformities, Congenital / genetics
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Male
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Scalp Dermatoses / congenital
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Scalp Dermatoses / diagnosis
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Scalp Dermatoses / genetics
Supplementary concepts
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Adams Oliver syndrome
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Megalocornea