Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1.
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.
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.
Tamer
T
Mansour
Department of Pediatrics and Human Development, College of Human Medicine, East Lansing, Michigan.
Sainan
S
Wei
Department of Pediatrics and Human Development, College of Human Medicine, East Lansing, Michigan.
Michael
M
Netzloff
Department of Pediatrics and Human Development, College of Human Medicine, East Lansing, Michigan ; Division of Neonatology, Sparrow Health System, Lansing, Michigan.
Tarek
T
Mohamed
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.
Brian
B
Schutte
Department of Pediatrics and Human Development, College of Human Medicine, East Lansing, Michigan ; Division of Neonatology, Sparrow Health System, Lansing, Michigan.
Said A
SA
Omar
baby; duplication; frontofacionasal dysplasia; malformation