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Fig. 4 | Diagnostic Pathology

Fig. 4

From: Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases

Fig. 4

Case 26: The fetus with fatal achondroplasia and fibroblast growth factor receptor 3 (FGFR3) gene mutations. a Gross anatomy of the aborted fetus, showing the markedly short arms and legs (arrowheads), with a narrow chest (arrow). b X-ray images of the aborted fetus, showing the “telephone receiver” appearance of the femurs and humeri, the malformation of the metaphyseal (crateriform) (arrowheads), and the narrow thorax (arrow). c The fetus carried the c.742C > T (p.Arg248Cys) mutation in the FGFR3 gene. The Sanger verification revealed that this mutation was new, and was not carried by the parents

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