Möbius syndrome and limb abnormalities with dominant inheritance

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Abstract
A 16-year-old male with bilateral sixth and seventh nerve palsy and arthrogryposis multiplex was evaluated for Möbius syndrome. Nineteen additional members of an extended family of 35 were examined. Six individuals in two generations had sixth and/or seventh nerve palsy with associated digital and/or limb abnormalities. Nine individuals had digital anomalies without sixth or seventh nerve palsy. Four out of nine had a diminished or absent gag reflex. One individual not examined (III-10) was reported to have strabismus and digital anomalies. The pedigree is consistent with dominant inheritance with variable expressivity and incomplete penetrance.