Cerebro-costo-mandibular syndrome: Early sonographic prenatal diagnosis

Abstract

In this case report the sonographic appearance of cerebro-costo-mandibular syndrome is described. Increased fetal nuchal translucency (at 11 weeks), micrognathia (at 12 weeks) and failure of ultrasound to identify the ribs (at 18 weeks) were revealed with serial scanning. These cardinal findings allowed the prenatal diagnosis of cerebro-costo-mandibular syndrome to be made at 18 weeks' gestation.