Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome

PURPOSE: We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa Syndrome (HVDAS), including longitudinal follow-up and analysis. OBSERVATIONS: After extensive workup, a young child with poor visual behavior, hypotonic cerebral palsy, intellectual disability, and...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Ophthalmol Case Rep
Prif Awduron: Gale, Michael J., Titus, Hope E., Harman, Gareth A., Alabduljalil, Talal, Dennis, Anna, Wilson, Jenny L., Koeller, David M., Finanger, Erika, Blasco, Peter A., Chiang, Pei-Wen, Karr, Daniel J., Yang, Paul
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2018
Pynciau:
Case report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5956711/
https://ncbi.nlm.nih.gov/pubmed/29780943
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajoc.2018.03.015
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