May 22, 2017 E-Pearl of the Week: Moebius syndrome
May 22, 2017
Moebius syndrome is a rare cause of unilateral or bilateral congenital facial palsy with additional loss of lateral eye movement due to cranial nerve VI involvement in 75% of cases. Cranial nerves III, IV, and VIII can also be involved. Other components of this syndrome include craniofacial and limb malformations (brachydactyly, syndactyly, and arthrogryposis multiplex). No specific genetic cause has been identified. The underlying pathophysiology is hypoplasia of the motor nucleus of the facial nerve with subsequent small or absent rootlets exiting the brainstem.
- Verzijl HT, van der Zwaag B, Cruysberg JR, Padberg GW. Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment. Neurology 2003; 61: 327.
Submitted by Jonathan D. Santoro, MD, Pediatric Neurology Resident, PGY4 - Lucile Packard Children's Hospital at Stanford.
Dr. Santoro reports no disclosures.
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