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Research ArticlePediatric Neuroimaging

Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development

Bar Neeman, Sniya Sudhakar, Asthik Biswas, Jessica Rosenblum, Jai Sidpra, Felice D’Arco, Ulrike Löbel, Marta Gómez-Chiari, Mercedes Serrano, Mercè Bolasell, Kartik Reddy, Liat Ben-Sira, Reem Zakzouk, Amal Al-Hashem, David M. Mirsky, Rajan Patel, Rupa Radhakrishnan, Karuna Shekdar, Matthew T. Whitehead and Kshitij Mankad
American Journal of Neuroradiology October 2024, 45 (10) 1570-1577; DOI: https://doi.org/10.3174/ajnr.A8364
Bar Neeman
aFrom the Department of Radiology (B.N., L.B.-S.), Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel
bFaculty of Medicine (B.N., L.B.-S.), Tel-Aviv University, Tel-Aviv, Israel
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  • ORCID record for Bar Neeman
Sniya Sudhakar
cDepartment of Radiology (S.S., A.B., F.D., U.L., K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
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Asthik Biswas
cDepartment of Radiology (S.S., A.B., F.D., U.L., K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
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Jessica Rosenblum
dCenter of Medical Genetics (J.R.), Antwerp University Hospital/University of Antwerp, Antwerp, Belgium
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Jai Sidpra
eDevelopmental Biology and Cancer Section (J.S., K.M.), University College London Great Ormond Street Institute of Child Health, London, UK
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Felice D’Arco
cDepartment of Radiology (S.S., A.B., F.D., U.L., K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
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Ulrike Löbel
cDepartment of Radiology (S.S., A.B., F.D., U.L., K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
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  • ORCID record for Ulrike Löbel
Marta Gómez-Chiari
fDiagnostic Imaging Department (M.G.-C.), Hospital Sant Joan de Déu, Barcelona, Spain
gInstitut de Recerca Sant Joan de Déu,(M.G.-C., M.S., M.B.), Barcelona, Spain
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Mercedes Serrano
gInstitut de Recerca Sant Joan de Déu,(M.G.-C., M.S., M.B.), Barcelona, Spain
hNeuropediatric Department (M.S.), Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases, Barcelona, Spain
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Mercè Bolasell
gInstitut de Recerca Sant Joan de Déu,(M.G.-C., M.S., M.B.), Barcelona, Spain
iDepartment of Genetic and Molecular Medicine/IPER (M.B.), Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain
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Kartik Reddy
jDepartment of Radiology and Imaging Sciences (K.R.), Emory University School of Medicine, Atlanta, Georgia
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Liat Ben-Sira
aFrom the Department of Radiology (B.N., L.B.-S.), Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel
bFaculty of Medicine (B.N., L.B.-S.), Tel-Aviv University, Tel-Aviv, Israel
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Reem Zakzouk
kDivision of Neuroradiology (R.Z.), Department of Radiology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
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Amal Al-Hashem
lDivision of Genetics (A.A.-H.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
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David M. Mirsky
mDepartment of Radiology (D.M.M.), Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado
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Rajan Patel
nTexas Children's Hospital (R.P.), Baylor College of Medicine, Houston, Texas
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Rupa Radhakrishnan
oDepartment of Radiology and Imaging Sciences (R.R.), Indiana University School of Medicine, Indianapolis, Indiana
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Karuna Shekdar
pDepartment of Radiology (K.S., M.T.W.), Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
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Matthew T. Whitehead
pDepartment of Radiology (K.S., M.T.W.), Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
qPerelman School of Medicine (M.T.W.), University of Pennsylvania, Philadelphia, Pennsylvania
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Kshitij Mankad
cDepartment of Radiology (S.S., A.B., F.D., U.L., K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
eDevelopmental Biology and Cancer Section (J.S., K.M.), University College London Great Ormond Street Institute of Child Health, London, UK
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Article Information

vol. 45 no. 10 1570-1577
DOI 
https://doi.org/10.3174/ajnr.A8364
PubMed 
39147584

Published By 
American Journal of Neuroradiology
Print ISSN 
0195-6108
Online ISSN 
1936-959X
History 
  • Received March 21, 2024
  • Accepted after revision May 16, 2024
  • Published online October 3, 2024.

Article Versions

  • Latest version (August 15, 2024 - 11:10).
  • Latest version (August 22, 2024 - 09:01).
  • You are viewing the most recent version of this article.
Copyright & Usage 
© 2024 by American Journal of Neuroradiology

Author Information

  1. Bar Neemana,b,
  2. Sniya Sudhakarc,
  3. Asthik Biswasc,
  4. Jessica Rosenblumd,
  5. Jai Sidprae,
  6. Felice D’Arcoc,
  7. Ulrike Löbelc,
  8. Marta Gómez-Chiarif,g,
  9. Mercedes Serranog,h,
  10. Mercè Bolasellg,i,
  11. Kartik Reddyj,
  12. Liat Ben-Siraa,b,
  13. Reem Zakzoukk,
  14. Amal Al-Hasheml,
  15. David M. Mirskym,
  16. Rajan Pateln,
  17. Rupa Radhakrishnano,
  18. Karuna Shekdarp,
  19. Matthew T. Whiteheadp,q and
  20. Kshitij Mankadc,e
  1. aFrom the Department of Radiology (B.N., L.B.-S.), Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel
  2. bFaculty of Medicine (B.N., L.B.-S.), Tel-Aviv University, Tel-Aviv, Israel
  3. cDepartment of Radiology (S.S., A.B., F.D., U.L., K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
  4. dCenter of Medical Genetics (J.R.), Antwerp University Hospital/University of Antwerp, Antwerp, Belgium
  5. eDevelopmental Biology and Cancer Section (J.S., K.M.), University College London Great Ormond Street Institute of Child Health, London, UK
  6. fDiagnostic Imaging Department (M.G.-C.), Hospital Sant Joan de Déu, Barcelona, Spain
  7. gInstitut de Recerca Sant Joan de Déu,(M.G.-C., M.S., M.B.), Barcelona, Spain
  8. hNeuropediatric Department (M.S.), Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases, Barcelona, Spain
  9. iDepartment of Genetic and Molecular Medicine/IPER (M.B.), Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain
  10. jDepartment of Radiology and Imaging Sciences (K.R.), Emory University School of Medicine, Atlanta, Georgia
  11. kDivision of Neuroradiology (R.Z.), Department of Radiology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
  12. lDivision of Genetics (A.A.-H.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
  13. mDepartment of Radiology (D.M.M.), Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado
  14. nTexas Children's Hospital (R.P.), Baylor College of Medicine, Houston, Texas
  15. oDepartment of Radiology and Imaging Sciences (R.R.), Indiana University School of Medicine, Indianapolis, Indiana
  16. pDepartment of Radiology (K.S., M.T.W.), Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
  17. qPerelman School of Medicine (M.T.W.), University of Pennsylvania, Philadelphia, Pennsylvania
  1. Please address correspondence to Bar Neeman, MD, Tel-Aviv Medical Center, Ichilov Radiology, 14 Weizmann St, Tel-Aviv, Israel; e-mail: BarNeeman{at}gmail.com; @barneeman89
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  • University College London

  • Cancer Research UK

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  • A Further Characterisation of the Neuropsychological Profile, Social Perception, and Academic Skills in Sotos Syndrome
    Niccolò Butti, Cosimo Urgesi, Alice Decio, Lidia Pezzani, Donatella Milani, Rosario Montirosso
    Journal of Intellectual Disability Research 2025
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Bar Neeman, Sniya Sudhakar, Asthik Biswas, Jessica Rosenblum, Jai Sidpra, Felice D’Arco, Ulrike Löbel, Marta Gómez-Chiari, Mercedes Serrano, Mercè Bolasell, Kartik Reddy, Liat Ben-Sira, Reem Zakzouk, Amal Al-Hashem, David M. Mirsky, Rajan Patel, Rupa Radhakrishnan, Karuna Shekdar, Matthew T. Whitehead, Kshitij Mankad
Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development
American Journal of Neuroradiology Oct 2024, 45 (10) 1570-1577; DOI: 10.3174/ajnr.A8364

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Sotos Syndrome: Neuroimaging Insights
Bar Neeman, Sniya Sudhakar, Asthik Biswas, Jessica Rosenblum, Jai Sidpra, Felice D’Arco, Ulrike Löbel, Marta Gómez-Chiari, Mercedes Serrano, Mercè Bolasell, Kartik Reddy, Liat Ben-Sira, Reem Zakzouk, Amal Al-Hashem, David M. Mirsky, Rajan Patel, Rupa Radhakrishnan, Karuna Shekdar, Matthew T. Whitehead, Kshitij Mankad
American Journal of Neuroradiology Oct 2024, 45 (10) 1570-1577; DOI: 10.3174/ajnr.A8364
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  • A Further Characterisation of the Neuropsychological Profile, Social Perception, and Academic Skills in Sotos Syndrome
    Niccolò Butti, Cosimo Urgesi, Alice Decio, Lidia Pezzani, Donatella Milani, Rosario Montirosso
    Journal of Intellectual Disability Research 2025

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