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The FG syndrome from a pathological perspective

Caterina Neri1, Karen Moser, Theodore J Pysher

  • 1Istituto di Ginecologia e Ostetricia, Università Cattolica del S. Cuore, Rome, Italy.

Fetal and Pediatric Pathology
|March 12, 2011
PubMed

We report on a case of FG syndrome in an almost 6-year-old boy, diagnosed post-mortem. The description of the intellectual and behavior phenotype provided by the mother, together with the evidence gathered at autopsy, were sufficient to reach a clinical diagnosis. The mother had mild manifestations, including a symptomatic tethered cord, which established her as a carrier of the putative mutation causing the syndrome in the son. The propositus' phenotype did not suggest involvement of the MED12 gene.

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