Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission

Ultrasonography in a female fetus revealed cystic cervical hygroma, severe micrognathia, and vertebral and upper limb anomalies suggestive of cerebro- costo-mandibular syndrome (CCMS) which was diagnosed ultrasonographically a t 16 weeks' gestation. The father is affected and presents with a Pierre Ro bin sequence, short stature and typical costovertebral anomalies. CCMS is a rare and severe disorder. The high frequency of sporadic cases, vertical t ransmission, and the excess of sibs affected via horizontal transmission su ggest dominant autosomal mutation with possible germinal mosaicism. The ver tical familial case detailed in the present report is a reminder of the hig h risk when one parent or one sibling is affected and the extreme variabili ty of phenotype and costal ossification. Early prenatal ultrasound diagnosi s is possible in a severely affected fetus. Copyright (C) 2001 John Wiley & Sons, Ltd.