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. 2021 Jun 18;11:12861. doi: 10.1038/s41598-021-92026-0

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© The Author(s) 2021

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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The index’s case presentation and genetics pedigree information. (A) Clinical features of the proband showing dysmorphic features, including frontal bossing, hypertelorism, deep-seated eyes, bilateral strabismus, corneal opacity, depressed nasal bridge, upturned nose, micrognathia, low-set ears, brachycephaly, and high arched palate. The hands and feet appeared small with broad thumbs. (B) Brain MRI and MRA: MRA (sagittal and coronal sections) showing right posterior cerebral and small left posterior-central gyrus arteriovenous malformations. (C) Chest X-ray showing cardiomegaly and congestion of the pulmonary vessels. T2-weighted axial section MRI shows right occipital cystic encephalomalacia. (D) Pedigree of the consanguineous Saudi family who had a daughter affected with a (black square) Restrictive cardiomyopathy, (blue square) Thrombocytopenia, (red square) Spasticity, (yellow square) Developmental delay and (black circle) Dysmorphic features; pedigree constructed from the details provided by the index’s mother, generated using (https://www.progenygenetics.com); squares (males); circles (females); slashed symbols (deceased individuals); annotated symbols (affected individuals); open symbols (unaffected individuals); arrowheads (index).