American Journal of Perinatology Reports (May 2015)

Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1

  • Tamer Mansour,
  • Sainan Wei,
  • Michael Netzloff,
  • Tarek Mohamed,
  • Brian Schutte,
  • Said A. Omar

DOI
https://doi.org/10.1055/s-0035-1549299
Journal volume & issue
Vol. 05, no. 02
pp. e111 – e1115

Abstract

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Abstract We report a new case of frontofacionasal dysplasia or dysostosis (FFND) with a 1.5 Mb duplication in the region of 7p15.2-p15.1, and provide a review of the literature to understand the underlying pathogenesis better.

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