Pseudo-TORCH syndrome or Baraitser–Reardon syndrome: diagnostic criteria

@article{Vivarelli2001PseudoTORCHSO,
  title={Pseudo-TORCH syndrome or Baraitser–Reardon syndrome: diagnostic criteria},
  author={R. Vivarelli and S. Grosso and M. Cioni and P. Galluzzi and P. Balestri},
  journal={Brain and Development},
  year={2001},
  volume={23},
  pages={18-23}
}
  • R. Vivarelli, S. Grosso, +2 authors P. Balestri
  • Published 2001
  • Medicine
  • Brain and Development
    • Intracranial calcification and microcephaly, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive infection-like condition named pseudo-TORCH syndrome. This emerging entity has been registered in eight families so far. We report on five patients from three unrelated Italian families affected by pseudo-TORCH syndrome. Reevaluation of literature allowed us to draw a specific clinical profile of the syndrome. Indeed, congenital… CONTINUE READING
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    References

    SHOWING 1-8 OF 8 REFERENCES
    The autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease: report of another Bedouin family.
    • 8
    Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease.
    • 59
    A Progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis
    • 353
    Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria.
    • 35
    A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection
    • 41
    Two siblings with microcephaly associated with calcification of cerebral white matter
    • 20
    • PDF
    Microcephaly and intracranial calcification in two brothers
    • 46
    • PDF
    Differences between the Hoyeraal-Hreidarsson syndrome and an autosomal recessive congenital intrauterine infection-like syndrome.
    • 5