How to cite this article: Kulkarni AM, Baskar S, Kulkarni ML, Kulkarni AJ, Mahuli AV, Vittalrao S, Kulkarni PM. 2010. Fetal intracranial calcification: Pseudo-TORCH phenotype and discussion of related phenotypes. Am J Med Genet Part A 152A:930–937.
Fetal intracranial calcification: Pseudo-TORCH phenotype and discussion of related phenotypes†
Version of Record online: 26 MAR 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 4, pages 930–937, April 2010
How to Cite
Kulkarni, A. M., Baskar, S., Kulkarni, M. L., Kulkarni, A. J., Mahuli, A. V., Vittalrao, S. and Kulkarni, P. M. (2010), Fetal intracranial calcification: Pseudo-TORCH phenotype and discussion of related phenotypes. Am. J. Med. Genet., 152A: 930–937. doi: 10.1002/ajmg.a.33358
- Issue online: 26 MAR 2010
- Version of Record online: 26 MAR 2010
- Manuscript Accepted: 15 JAN 2010
- Manuscript Received: 4 AUG 2009
- intracranial calcification;
- band-like calcification;
- abnormal gyral pattern
Fetal intracranial calcification (ICC) noted during antenatal imaging poses a diagnostic challenge. Although this presentation is most commonly associated with intrauterine infection, non-infectious causes of fetal ICC have been reported and include metabolic, genetic, or hemodynamic conditions. We report on a patient with antenatally detected extensive ICC, in whom postnatal imaging revealed a distinctive band-like ICC with abnormal gyral pattern and a negative serology for TORCH infections. Such a constellation of findings have been previously described under the terminology of “pseudo-TORCH phenotype,” and we posit that our patient represents this entity. Our patient had unreported dysmorphic features, which expands the phenotypic spectrum of this recently described heterogenous condition. In addition we report on the progression of the phenotype both clinically and radiologically. In view of the limited information available for the differential diagnosis of fetal ICC, we also review the available literature on this topic. © 2010 Wiley-Liss, Inc.