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Article

Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.

American journal of medical genetics. Part A - 1 Oct 2016

Krakow Deborah, Cohn Daniel H, Wilcox William R, Noh Grace J, Raffel Leslie J, Sarukhanov Anna, Ivanova Margarita H, Danielpour Moise, Grange Dorothy K, Elliott Alison M, Bernstein Jonathan A, Rimoin David L, Merrill Amy E, Lachman Ralph S

Abstract excerpt

Bent Bone Dysplasia-FGFR2 type is a relatively recently described bent bone phenotype with diagnostic clinical, radiographic, and molecular characteristics. Here we report on 11 individuals, including the original four patients plus seven new individuals with three longer-term survivors. The prenatal phenotype included stillbirth, bending of the femora, and a high incidence of polyhydramnios, prematurity, and...

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Identifiers

PMID: 27240702
DOI: 10.1002/ajmg.a.37772
PMCID: PMC5538138

Genes

FGFR2

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