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AJP Rep. 2015 Oct;5(2):e111-e1115. doi: 10.1055/s-0035-1549299. Epub 2015 May 15.

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

AJP reports

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

Affiliations

  1. Department of Pediatrics and Human Development, College of Human Medicine, East Lansing, Michigan ; Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, Michigan.
  2. Department of Pediatrics and Human Development, College of Human Medicine, East Lansing, Michigan.
  3. Department of Pediatrics and Human Development, College of Human Medicine, East Lansing, Michigan ; Division of Neonatology, Sparrow Health System, Lansing, Michigan.

PMID: 26495166 PMCID: PMC4603863 DOI: 10.1055/s-0035-1549299

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.

Keywords: baby; duplication; frontofacionasal dysplasia; malformation

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