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

Clin Dysmorphol. 2022 Jan 1;31(1):50-53. doi: 10.1097/MCD.0000000000000398.

Authors

José Sá Silva¹, José E Alves¹, Célia Azevedo Soares^{2

3}, Natália Tkachenko², Cristina Garrido⁴

Affiliations

¹ Departments of Neuroradiology.
² Medical Genetics, Centro Hospitalar Universitário do Porto.
³ Unit for Multidisciplinary Research in Biomedicine, Instituto de Ciências Biomédicas Abel Salazar/Universidade do Porto.
⁴ Department of Neuropediatrics, Centro Hospitalar Universitário do Porto, Porto, Portugal.

PMID: 34693919
DOI: 10.1097/MCD.0000000000000398

No abstract available

Publication types

Case Reports

MeSH terms

Brain / diagnostic imaging
Haploinsufficiency
Humans
Magnetic Resonance Imaging
Mandibulofacial Dysostosis*
Peptide Elongation Factors / genetics
Polymicrogyria* / genetics
Ribonucleoprotein, U5 Small Nuclear

Substances

EFTUD2 protein, human
Peptide Elongation Factors
Ribonucleoprotein, U5 Small Nuclear