File:PMC4760119 hgv201569-f1.png

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PMC4760119_hgv201569-f1.png ‎(512 × 448 pixels, file size: 400 KB, MIME type: image/png)

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Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)

Summary

Author:Wentzensen IM, Johnston JJ, Patton JH, Graham JM, Sapp JC, Biesecker LG ,Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health, McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins School of Medicine (Openi/National Library of Medicine) Source:https://openi.nlm.nih.gov/detailedresult?img=PMC4760119_hgv201569-f1&query=Orofaciodigital%20syndrome%201&it=xg&req=4&npos=3 Description:fig1: (a) Hamartoma of the tongue, repaired cleft palate and bifrontal narrowing in the patient with c.1129+4A>T OFD1 variant. (b) Preaxial polydactyly with bifid halluces. (c) Magnetic resonance imaging shows a small cerebellum and vermis with a Dandy Walker malformation with enlarged posterior fossa. The patient also had ventriculomegaly and absence of the corpus callosum. (d) Molar tooth sign.

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Date/TimeThumbnailDimensionsUserComment
current21:31, 27 October 2021Thumbnail for version as of 21:31, 27 October 2021512 × 448 (400 KB)Ozzie10aaaaAuthor:Wentzensen IM, Johnston JJ, Patton JH, Graham JM, Sapp JC, Biesecker LG ,Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health, McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins School of Medicine (Openi/National Library of Medicine) Source:https://openi.nlm.nih.gov/detailedresult?img=PMC4760119_hgv201569-f1&query=Orofaciodigital%20syndrome%201&it=xg&req=4&npos=3 Description:fig1: (a) Hamartoma of the tongue, repa...

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