A Newborn with Extremely Rare Cerebro-Costo-Mandibular Syndrome; A Case Report Study.

BACKGROUND

Cerebro-costo-mandibular syndrome (CCMS) is a rare congenital syndrome consisting of the main features of micrognathia and posterior rib gaps. Due to multiple abnormalities, patients almost have difficulty breathing with upper airway obstruction, decreased thoracic capacity, spina bifida, and scoliosis.

CASE PRESENTATION

We describe a case of a late preterm neonate boy presenting with low Apgar, respiratory distress, and complicated orofacial anomalies that had a poor outcome. His radiographic findings showed mandibular hypoplasia (micrognathia), chest deformity, multiple posterior rib gap defects, and abnormal costotransverse articulation. Based on physical examination and radiologic findings, the diagnosis of CCMS confirmed for the patient.

CONCLUSION

Physicians should always consider the diagnosis of CCMS in all infants with micrognathia and rib-gap defects. These infants need careful respiratory function monitoring. Early airway management improves growth and development. In addition, their physical and psychological development should be assessed regularly.