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AJP Rep 2015; 05(02): e111-e1115
DOI: 10.1055/s-0035-1549299
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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

Tamer Mansour
1   Department of Pediatrics and Human Development, College of Human Medicine, East Lansing, Michigan
2   Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, Michigan
,
Sainan Wei
1   Department of Pediatrics and Human Development, College of Human Medicine, East Lansing, Michigan
,
Michael Netzloff
1   Department of Pediatrics and Human Development, College of Human Medicine, East Lansing, Michigan
,
Tarek Mohamed
1   Department of Pediatrics and Human Development, College of Human Medicine, East Lansing, Michigan
3   Division of Neonatology, Sparrow Health System, Lansing, Michigan
,
Brian Schutte
1   Department of Pediatrics and Human Development, College of Human Medicine, East Lansing, Michigan
2   Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, Michigan
,
Said A. Omar
1   Department of Pediatrics and Human Development, College of Human Medicine, East Lansing, Michigan
3   Division of Neonatology, Sparrow Health System, Lansing, Michigan
› Author Affiliations
Further Information

Publication History

23 November 2014

25 February 2015

Publication Date:
15 May 2015 (online)

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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.

Keywords

baby - frontofacionasal dysplasia - duplication - malformation

Supplementary Material

 

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