PEN-HUA SU2026-10-162026-10-162010-04-01Pure ID: 15049925Pure UUID: 892ae1f2-b6ac-4b25-8d12-20bab2bafd2810.1097/MCD.0b013e328335c133https://www.scopus.com/pages/publications/77949376134https://scholars.csmu.edu.tw/handle/123456789/33524Cerebro-costo-mandibular syndrome (CCMS) is an uncommon multiple congenital anomaly syndrome characterized by severe micrognathia, posterior rib-gap defects, and developmental delay. The cause of CCMS is unknown. Genes hypothesized to have a causal role in CCMS, include myogenic factor 5 (MYF5), goosecoid homeobox (GSC) and runt-related transcription factor 2 (RUNX2) [formerly known as core-binding factor (CBFA1)]. We report an infant with typical features of CCMS who, on prenatal ultrasound, was found to have severe micrognathia. We present the first image by three-dimensional computed tomography of posterior rib-defect, and we exclude mutations of the MYF5, GSC, RUNX2, and TCOF1 genes in our patient. Further molecular studies are needed to evaluate the cause of CCMS.5enjournal article