Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

@article{Vanderver2014CharacteristicBM,
  title={Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.},
  author={Adeline Vanderver and Davide Tonduti and Ilana Kahn and Johanna Schmidt and Līvija Medne and Jodie M. Vento and Kimberly A. Chapman and Brendan C. Lanpher and Phillip L. Pearl and Andrea Gropman and Charles M Lourenço and John-Steven Bamforth and Cynthia Sharpe and Merc{\'e}des Pineda and Jens Schallner and Olaf Bodamer and Simona Orcesi and Saskia A Lesnik Oberstein and Erik A Sistermans and Helger G. Yntema and Carsten G. Bonnemann and Amy T Waldman and Marjo S van der Knaap},
  journal={American journal of medical genetics. Part A},
  year={2014},
  volume={164A 3},
  pages={
          627-33
        }
}
We describe an MRI phenotype seen in a series of patients with mutations in PTEN who have clinical features consistent with PTEN hamartoma tumor syndrome (PHTS). Retrospective review of clinical data and MRI was performed in 23 subjects evaluated in four different tertiary care centers with clinical programs in inherited disorders of the white matter. Patients were referred due to abnormal MRI features and abnormal PTEN sequencing was identified. All subjects had significant macrocephaly (on… CONTINUE READING

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