Prenatal ultrasonography and genetic analysis of fetal cleidocranial dysplasia: A case report

Abstract

BACKGROUND Cleidocranial dysplasia (CCD) is an infrequent clinical condition with an autosomal dominant inheritance pattern. It is characterized by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, and short stature. Approximately 60%-70% of patients with CCD have mutations in the RUNX family transcription factor 2 gene. However, prenatal diagnosis of CCD is difficult when the family history is unknown. CASE SUMMARY We report a rare case of fetal CCD with an unknown family history, confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks. The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene (c.674G>A). After careful consideration, the pregnant woman and her family decided to continue the pregnancy. CONCLUSION Definitive prenatal diagnosis of CCD should include family history, ultrasound diagnosis, and genetic analysis, especially if family history is unknown.