The spectrum of congenital facial diplegia (Moebius syndrome)

The Moebius syndrome consists of congenital facial diplegia with associated anomalies. No single pathophysiologic hypothesis accounts for all aspects of the syndrome. We present six cases which manifest a very broad spectrum of associated neurologic anomalies. Postmortem examination was performed on two cases. Midline brainstem necrosis was evident in one while the other had subtle brainstem hypoplasia. The four other patients have demonstrated fixed deficits on follow-up examinations. Improvement in brainstem evoked potential waveforms has occurred in three cases, but the significance is uncertain. Many of the cases were delivered by caesarean section because of failure of labor to progress, and had associated polyhydramnios and arthrogryposis. These features suggest that a defect is established in utero. Only one infant, born prematurely, may have suffered some perinatal brainstem insult. Congenital facial diplegia is a heterogenetic entity which can affect the nervous system in many different ways.