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Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei

Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case... 50 Short case report Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei a a b,c José Sá Silva , José E. Alves , Célia Azevedo Soares , b d Natália Tkachenko and Cristina Garrido Clinical Dysmorphology 2022, 31:50–53 Correspondence to José S. Silva, MD, Department of Neuroradiology, Centro Hospitalar Universitário do Porto, Porto, Portugal a b Departments of Neuroradiology, Medical Genetics, Centro Hospitalar Tel: +35 1912636037; e-mail: jose.msas.silva@gmail.com Universitário do Porto, Unit for Multidisciplinary Research in Biomedicine, Instituto de Ciências Biomédicas Abel Salazar/Universidade do Porto and Received 16 July 2021 Accepted 13 September 2021 Department of Neuropediatrics, Centro Hospitalar Universitário do Porto, Porto, Portugal List of key features Clinical report Craniofacial dysostosis The patient is a 7-year-old female born at 41 weeks gesta- Polymicrogyria tion after a pregnancy complicated by placenta previa. She Abnormality of brain morphology was the first child of healthy non-consanguineous parents. Brain imaging abnormality Her birth weight and length were on the 10th centile, but Congenital microcephaly her occipital frontal circumference (OFC) was below the Intellectual disability 3rd centile (32.5 cm). She was noted at birth to have a prom- Seizures inent metopic suture, auricular http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Dysmorphology Wolters Kluwer Health

Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei

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Publisher
Wolters Kluwer Health
Copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
ISSN
0962-8827
eISSN
1473-5717
DOI
10.1097/mcd.0000000000000398
Publisher site
See Article on Publisher Site

Abstract

50 Short case report Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei a a b,c José Sá Silva , José E. Alves , Célia Azevedo Soares , b d Natália Tkachenko and Cristina Garrido Clinical Dysmorphology 2022, 31:50–53 Correspondence to José S. Silva, MD, Department of Neuroradiology, Centro Hospitalar Universitário do Porto, Porto, Portugal a b Departments of Neuroradiology, Medical Genetics, Centro Hospitalar Tel: +35 1912636037; e-mail: jose.msas.silva@gmail.com Universitário do Porto, Unit for Multidisciplinary Research in Biomedicine, Instituto de Ciências Biomédicas Abel Salazar/Universidade do Porto and Received 16 July 2021 Accepted 13 September 2021 Department of Neuropediatrics, Centro Hospitalar Universitário do Porto, Porto, Portugal List of key features Clinical report Craniofacial dysostosis The patient is a 7-year-old female born at 41 weeks gesta- Polymicrogyria tion after a pregnancy complicated by placenta previa. She Abnormality of brain morphology was the first child of healthy non-consanguineous parents. Brain imaging abnormality Her birth weight and length were on the 10th centile, but Congenital microcephaly her occipital frontal circumference (OFC) was below the Intellectual disability 3rd centile (32.5 cm). She was noted at birth to have a prom- Seizures inent metopic suture, auricular

Journal

Clinical Dysmorphology – Wolters Kluwer Health

Published: Jan 22, 2022

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