Two independent rare events--a mutation in the RUNX2 gene and a de novo balanced translocation--in a fetus with cleidocranial dysplasia: pitfall in prenatal diagnosis

MeSH terms

• Abnormalities, Multiple / diagnostic imaging
• Abnormalities, Multiple / genetics*
• Abnormalities, Multiple / pathology
• Adult
• Cleidocranial Dysplasia / diagnostic imaging
• Cleidocranial Dysplasia / genetics*
• Cleidocranial Dysplasia / pathology
• Core Binding Factor Alpha 1 Subunit / genetics*
• DNA Mutational Analysis
• Female
• Fetal Diseases / diagnostic imaging
• Fetal Diseases / genetics*
• Fetal Diseases / pathology
• Humans
• Mutation, Missense*
• Pregnancy
• Prenatal Diagnosis
• Sequence Analysis, DNA
• Translocation, Genetic / genetics*
• Ultrasonography, Prenatal